DSC2 non-truncating variants in ExAC

DSC2 gene summary
DSC2 variants in DCM

The table below lists the DSC2 non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 28681916 c.19T>C p.S7P missense 0.00009406●●●●●●
2. 28648970 c.2398G>T p.A800S missense 0.00008241●●●●●●
3. 28648897 c.2471C>T p.S824L missense 0.00008239●●●●●●
4. 28666580 c.901A>G p.T301A missense 0.00008237●●●●●●
5. 28671068 c.397G>A p.A133T missense 0.00007489●●●●●●
6. 28649054 c.2314G>A p.V772M missense 0.00007421●●●●●●
7. 28666646 c.835C>T p.R279C missense 0.00007420●●●●●●
8. 28666624 c.857G>T p.G286V missense 0.00007416●●●●●●
9. 28672152 c.266C>T p.S89L missense 0.00006609●●●●●●
10. 28650804 c.2138C>T p.T713M missense 0.00006599●●●●●●
11. 28660126 c.1456G>A p.V486M missense 0.00006594●●●●●●
12. 28669413 c.619G>A p.E207K missense 0.00006593●●●●●●
13. 28649104 c.2264G>T p.G755V missense 0.00005812●●●●●●
14. 28648084 c.2603C>T p.S868F missense 0.00005769●●●●●●
15. 28654771 c.1766T>C p.M589T missense 0.00004964●●●●●●
16. 28662236 c.1231A>G p.K411E missense 0.00004955●●●●●●
17. 28660146 c.1436G>T p.R479L missense 0.00004945●●●●●●
18. 28659842 c.1634A>G p.Y545C missense 0.00004944●●●●●●
19. 28649033 c.2335G>A p.G779R missense 0.00004944●●●●●●
20. 28654830 c.1707C>A p.D569E missense 0.00004195●●●●●●
21. 28649070 c.2298G>C p.Q766H missense 0.00004126●●●●●●
22. 28648987 c.2381C>T p.S794L missense 0.00004120●●●●●●
23. 28669554 c.478C>A p.Q160K missense 0.00003532●●●●●●
24. 28662951 c.1018A>G p.T340A missense 0.00003401●●●●●●
25. 28654816 c.1721G>A p.S574N missense 0.00003330●●●●●●
26. 28671071 c.394C>T p.R132C missense 0.00003330●●●●●●
27. 28654787 c.1750A>G p.I584V missense 0.00003314●●●●●●
28. 28667673 c.734A>C p.E245A missense 0.00003311●●●●●●
29. 28654735 c.1802A>C p.E601A missense 0.00003305●●●●●●
30. 28650816 c.2126G>A p.C709Y missense 0.00003304●●●●●●
31. 28649068 c.2300G>A p.G767E missense 0.00003301●●●●●●
32. 28659930 c.1546G>C p.G516R missense 0.00003298●●●●●●
33. 28651571 c.2125T>G p.C709G missense 0.00003298●●●●●●
34. 28648063 c.2624G>A p.R875Q missense 0.00003298●●●●●●
35. 28648096 c.2591C>T p.S864L missense 0.00003297●●●●●●
36. 28650780 c.2162C>T p.T721M missense 0.00003297●●●●●●
37. 28648975 c.2393G>T p.R798L missense 0.00003297●●●●●●
38. 28649040 c.2328C>G p.I776M missense 0.00003296●●●●●●
39. 28650751 c.2191G>A p.D731N missense 0.00003296●●●●●●
40. 28669544 c.488C>T p.T163M missense 0.00002563●●●●●●
41. 28671102 c.363G>T p.K121N missense 0.00002525●●●●●●
42. 28662386 c.1081G>A p.V361M missense 0.00002520●●●●●●
43. 28671070 c.395G>A p.R132H missense 0.00002497●●●●●●
44. 28673594 c.82G>T p.A28S missense 0.00002487●●●●●●
45. 28667773 c.634A>G p.I212V missense 0.00002481●●●●●●
46. 28667688 c.719A>G p.Y240C missense 0.00002480●●●●●●
47. 28672091 c.327A>G p.I109M missense 0.00002480●●●●●●
48. 28672123 c.295T>A p.S99T missense 0.00002478●●●●●●
49. 28672132 c.286A>G p.I96V missense 0.00002478●●●●●●
50. 28662248 c.1219G>T p.V407L missense 0.00002477●●●●●●
51. 28651628 c.2068G>T p.V690L missense 0.00002475●●●●●●
52. 28660291 c.1291A>G p.M431V missense 0.00002475●●●●●●
53. 28666657 c.824C>T p.T275M missense 0.00002475●●●●●●
54. 28669485 c.547C>T p.R183W missense 0.00002475●●●●●●
55. 28648023 c.2664G>T p.E888D missense 0.00002474●●●●●●
56. 28650697 c.2245A>C p.K749Q missense 0.00002473●●●●●●
57. 28669437 c.595C>T p.R199C missense 0.00002473●●●●●●
58. 28648070 c.2617A>C p.S873R missense 0.00002473●●●●●●
59. 28660267 c.1315A>G p.N439D missense 0.00002473●●●●●●
60. 28648150 c.2537A>C p.N846T missense 0.00002473●●●●●●
61. 28648053 c.2634_2636delAGA p.Glu878del inframe 0.00002473●●●●●●
62. 28660240 c.1342A>G p.S448G missense 0.00002473●●●●●●
63. 28673527 c.149G>A p.G50D missense 0.00002472●●●●●●
64. 28660144 c.1438A>G p.M480V missense 0.00002472●●●●●●
65. 28669415 c.617A>G p.Y206C missense 0.00002472●●●●●●
66. 28648927 c.2441C>T p.T814M missense 0.00002472●●●●●●
67. 28663020 c.949G>A p.D317N missense 0.00001948●●●●●●
68. 28662996 c.973G>A p.V325I missense 0.00001808●●●●●●
69. 28654858 c.1679C>T p.T560M missense 0.00001768●●●●●●
70. 28662950 c.1019C>A p.T340N missense 0.00001700●●●●●●
71. 28654658 c.1879G>A p.A627T missense 0.00001695●●●●●●
72. 28651786 c.1910A>G p.Y637C missense 0.00001676●●●●●●
73. 28671092 c.373A>G p.T125A missense 0.00001675●●●●●●
74. 28672242 c.176C>T p.T59I missense 0.00001667●●●●●●
75. 28654691 c.1846A>G p.T616A missense 0.00001657●●●●●●
76. 28654778 c.1759C>A p.P587T missense 0.00001656●●●●●●
77. 28667776 c.631A>G p.I211V missense 0.00001654●●●●●●
78. 28667695 c.712_714delGAT inframe 0.00001653●●●●●●
79. 28649081 c.2287G>A p.A763T missense 0.00001652●●●●●●
80. 28647992 c.2695A>T p.M899L missense 0.00001651●●●●●●
81. 28667725 c.682C>G p.P228A missense 0.00001651●●●●●●
82. 28666645 c.836G>A p.R279H missense 0.00001649●●●●●●
83. 28650695 c.2247A>T p.K749N missense 0.00001649●●●●●●
84. 28666616 c.865C>T p.P289S missense 0.00001648●●●●●●
85. 28659897 c.1579A>G p.I527V missense 0.00001648●●●●●●
86. 28650726 c.2216T>C p.V739A missense 0.00001648●●●●●●
87. 28648922 c.2446G>A p.V816M missense 0.00001648●●●●●●
88. 28660161 c.1421C>T p.P474L missense 0.00001648●●●●●●
89. 28648097 c.2590T>C p.S864P missense 0.00001648●●●●●●
90. 28649011 c.2357T>C p.M786T missense 0.00001648●●●●●●
91. 28659908 c.1568A>G p.N523S missense 0.00001648●●●●●●
92. 28650727 c.2215G>A p.V739I missense 0.00001648●●●●●●
93. 28660180 c.1402G>A p.G468S missense 0.00001648●●●●●●
94. 28669436 c.596G>A p.R199H missense 0.00001648●●●●●●
95. 28660207 c.1375A>G p.T459A missense 0.00001648●●●●●●
96. 28673554 c.122C>T p.S41F missense 0.00001648●●●●●●
97. 28666607 c.874C>T p.P292S missense 0.00001648●●●●●●
98. 28650736 c.2206A>G p.N736D missense 0.00001648●●●●●●
99. 28660232 c.1350A>C p.R450S missense 0.00001648●●●●●●
100. 28659895 c.1581C>G p.I527M missense 0.00001648●●●●●●
101. 28669424 c.608G>A p.R203H missense 0.00001648●●●●●●
102. 28659839 c.1637A>G p.N546S missense 0.00001648●●●●●●
103. 28649014 c.2354A>G p.E785G missense 0.00001648●●●●●●
104. 28666583 c.898A>G p.T300A missense 0.00001647●●●●●●
105. 28654873 c.1664G>C p.G555A missense 0.00001032●●●●●●
106. 28654861 c.1676G>A p.C559Y missense 0.00000897●●●●●●
107. 28662987 c.982A>T p.M328L missense 0.00000888●●●●●●
108. 28662980 c.989G>T p.G330V missense 0.00000877●●●●●●
109. 28666699 c.782C>T p.T261I missense 0.00000856●●●●●●
110. 28651804 c.1892C>T p.T631I missense 0.00000855●●●●●●
111. 28654844 c.1693A>G p.I565V missense 0.00000851●●●●●●
112. 28662945 c.1024A>G p.I342V missense 0.00000847●●●●●●
113. 28662935 c.1034T>C p.I345T missense 0.00000842●●●●●●
114. 28662921 c.1048G>T p.D350Y missense 0.00000840●●●●●●
115. 28651789 c.1907C>G p.S636C missense 0.00000840●●●●●●
116. 28662919 c.1050C>A p.D350E missense 0.00000839●●●●●●
117. 28662918 c.1051C>T p.H351Y missense 0.00000839●●●●●●
118. 28671097 c.368G>T p.R123I missense 0.00000839●●●●●●
119. 28671097 c.368_370delGAC p.Arg123_His124delinsAsn inframe 0.00000838●●●●●●
120. 28654667 c.1870A>G p.R624G missense 0.00000837●●●●●●
121. 28651778 c.1918G>A p.D640N missense 0.00000836●●●●●●
122. 28673604 c.72C>G p.I24M missense 0.00000835●●●●●●
123. 28651772 c.1924C>G p.P642A missense 0.00000835●●●●●●
124. 28651750 c.1946C>T p.P649L missense 0.00000834●●●●●●
125. 28669530 c.502A>G p.T168A missense 0.00000834●●●●●●
126. 28649113 c.2255C>T p.S752F missense 0.00000833●●●●●●
127. 28651744 c.1952C>T p.T651I missense 0.00000833●●●●●●
128. 28651745 c.1951A>G p.T651A missense 0.00000833●●●●●●
129. 28662376 c.1091T>G p.V364G missense 0.00000833●●●●●●
130. 28651717 c.1979G>A p.S660N missense 0.00000833●●●●●●
131. 28651748 c.1948A>G p.I650V missense 0.00000833●●●●●●
132. 28669523 c.509A>G p.Y170C missense 0.00000832●●●●●●
133. 28672236 c.182C>G p.A61G missense 0.00000832●●●●●●
134. 28671067 c.398C>T p.A133V missense 0.00000832●●●●●●
135. 28672232 c.186T>A p.N62K missense 0.00000831●●●●●●
136. 28651700 c.1996G>A p.V666I missense 0.00000831●●●●●●
137. 28651702 c.1994A>G p.D665G missense 0.00000831●●●●●●
138. 28669517 c.515C>T p.S172F missense 0.00000830●●●●●●
139. 28662372 c.1095A>T p.E365D missense 0.00000830●●●●●●
140. 28669515 c.517A>T p.I173L missense 0.00000830●●●●●●
141. 28651679 c.2017A>G p.T673A missense 0.00000829●●●●●●
142. 28654790 c.1747A>G p.I583V missense 0.00000829●●●●●●
143. 28671049 c.416C>T p.P139L missense 0.00000829●●●●●●
144. 28667653 c.754A>T p.I252F missense 0.00000829●●●●●●
145. 28672218 c.200G>A p.S67N missense 0.00000829●●●●●●
146. 28654690 c.1847C>T p.T616I missense 0.00000829●●●●●●
147. 28667653 c.754A>G p.I252V missense 0.00000829●●●●●●
148. 28672216 c.202G>C p.D68H missense 0.00000829●●●●●●
149. 28654787 c.1750A>T p.I584F missense 0.00000828●●●●●●
150. 28654777 c.1760C>T p.P587L missense 0.00000828●●●●●●
151. 28662364 c.1103C>T p.T368I missense 0.00000828●●●●●●
152. 28662206 c.1261A>C p.K421Q missense 0.00000828●●●●●●
153. 28654699 c.1838A>G p.E613G missense 0.00000828●●●●●●
154. 28672210 c.208G>C p.D70H missense 0.00000828●●●●●●
155. 28654700 c.1837G>C p.E613Q missense 0.00000828●●●●●●
156. 28673591 c.85A>T p.S29C missense 0.00000828●●●●●●
157. 28671028 c.437A>T p.E146V missense 0.00000828●●●●●●
158. 28671037 c.428C>T p.S143L missense 0.00000828●●●●●●
159. 28660312 c.1270A>G p.N424D missense 0.00000827●●●●●●
160. 28672097 c.321G>T p.K107N missense 0.00000827●●●●●●
161. 28672188 c.230G>T p.G77V missense 0.00000827●●●●●●
162. 28671014 c.451C>A p.P151T missense 0.00000827●●●●●●
163. 28651657 c.2039G>A p.R680H missense 0.00000827●●●●●●
164. 28651657 c.2039G>T p.R680L missense 0.00000827●●●●●●
165. 28671023 c.442T>A p.S148T missense 0.00000827●●●●●●
166. 28667776 c.631A>T p.I211L missense 0.00000827●●●●●●
167. 28651658 c.2038C>T p.R680C missense 0.00000827●●●●●●
168. 28651660 c.2036A>G p.H679R missense 0.00000827●●●●●●
169. 28672202 c.216A>C p.Q72H missense 0.00000827●●●●●●
170. 28651658 c.2038C>A p.R680S missense 0.00000827●●●●●●
171. 28649092 c.2276A>G p.Q759R missense 0.00000827●●●●●●
172. 28651639 c.2057G>T p.G686V missense 0.00000826●●●●●●
173. 28672100 c.318G>T p.K106N missense 0.00000826●●●●●●
174. 28667754 c.653C>T p.P218L missense 0.00000826●●●●●●
175. 28667749 c.658G>A p.G220R missense 0.00000826●●●●●●
176. 28672179 c.239A>G p.Y80C missense 0.00000826●●●●●●
177. 28667692 c.715A>G p.N239D missense 0.00000826●●●●●●
178. 28667760 c.647C>T p.T216I missense 0.00000826●●●●●●
179. 28650814 c.2128A>T p.I710F missense 0.00000826●●●●●●
180. 28662352 c.1115A>C p.E372A missense 0.00000826●●●●●●
181. 28667705 c.702G>C p.E234D missense 0.00000826●●●●●●
182. 28651637 c.2059G>A p.G687S missense 0.00000826●●●●●●
183. 28669496 c.536A>G p.D179G missense 0.00000826●●●●●●
184. 28672147 c.271A>G p.K91E missense 0.00000826●●●●●●
185. 28649074 c.2294C>T p.A765V missense 0.00000826●●●●●●
186. 28662225 c.1242A>T p.E414D missense 0.00000826●●●●●●
187. 28654741 c.1796C>G p.P599R missense 0.00000826●●●●●●
188. 28667760 c.647C>G p.T216R missense 0.00000826●●●●●●
189. 28647988 c.2699A>G p.K900R missense 0.00000826●●●●●●
190. 28667714 c.693C>G p.I231M missense 0.00000826●●●●●●
191. 28667743 c.664A>G p.T222A missense 0.00000826●●●●●●
192. 28666667 c.814G>A p.E272K missense 0.00000826●●●●●●
193. 28672161 c.257T>C p.L86P missense 0.00000826●●●●●●
194. 28662230 c.1237A>G p.N413D missense 0.00000826●●●●●●
195. 28654730 c.1807A>G p.I603V missense 0.00000826●●●●●●
196. 28667761 c.646A>G p.T216A missense 0.00000826●●●●●●
197. 28660070 c.1512T>G p.S504R missense 0.00000825●●●●●●
198. 28651576 c.2120T>C p.L707P missense 0.00000825●●●●●●
199. 28662302 c.1165T>A p.W389R missense 0.00000825●●●●●●
200. 28662283 c.1184T>C p.I395T missense 0.00000825●●●●●●
201. 28649066 c.2302G>T p.V768F missense 0.00000825●●●●●●
202. 28660278 c.1304T>C p.I435T missense 0.00000825●●●●●●
203. 28650796 c.2146T>G p.C716G missense 0.00000825●●●●●●
204. 28660281 c.1301A>G p.Q434R missense 0.00000825●●●●●●
205. 28660072 c.1510A>G p.S504G missense 0.00000825●●●●●●
206. 28669484 c.548G>A p.R183Q missense 0.00000825●●●●●●
207. 28669484 c.548G>T p.R183L missense 0.00000825●●●●●●
208. 28660273 c.1309G>A p.V437I missense 0.00000825●●●●●●
209. 28651624 c.2072A>C p.Q691P missense 0.00000825●●●●●●
210. 28667740 c.667C>T p.P223S missense 0.00000825●●●●●●
211. 28650694 c.2248G>C p.V750L missense 0.00000825●●●●●●
212. 28660076 c.1506T>A p.S502R missense 0.00000825●●●●●●
213. 28659938 c.1538A>G p.D513G missense 0.00000825●●●●●●
214. 28667733 c.674T>G p.L225R missense 0.00000825●●●●●●
215. 28660292 c.1290G>C p.Q430H missense 0.00000825●●●●●●
216. 28662251 c.1216A>G p.I406V missense 0.00000825●●●●●●
217. 28660290 c.1292T>G p.M431R missense 0.00000825●●●●●●
218. 28660275 c.1307G>T p.G436V missense 0.00000825●●●●●●
219. 28650795 c.2147G>T p.C716F missense 0.00000825●●●●●●
220. 28669470 c.562G>T p.V188L missense 0.00000825●●●●●●
221. 28659939 c.1537G>T p.D513Y missense 0.00000825●●●●●●
222. 28660110 c.1472A>G p.N491S missense 0.00000824●●●●●●
223. 28666612 c.869C>A p.P290Q missense 0.00000824●●●●●●
224. 28659864 c.1612G>A p.E538K missense 0.00000824●●●●●●
225. 28660147 c.1435C>T p.R479C missense 0.00000824●●●●●●
226. 28666640 c.841A>G p.K281E missense 0.00000824●●●●●●
227. 28648930 c.2438A>C p.H813P missense 0.00000824●●●●●●
228. 28660187 c.1395G>T p.Q465H missense 0.00000824●●●●●●
229. 28648118 c.2569T>C p.Y857H missense 0.00000824●●●●●●
230. 28650792 c.2150G>A p.G717E missense 0.00000824●●●●●●
231. 28666637 c.844T>C p.Y282H missense 0.00000824●●●●●●
232. 28666566 c.915_917delCAC p.Thr307del inframe 0.00000824●●●●●●
233. 28666550 c.931C>A p.L311I missense 0.00000824●●●●●●
234. 28659918 c.1558A>G p.I520V missense 0.00000824●●●●●●
235. 28649015 c.2353G>A p.E785K missense 0.00000824●●●●●●
236. 28648960 c.2408A>G p.H803R missense 0.00000824●●●●●●
237. 28660251 c.1331C>G p.S444C missense 0.00000824●●●●●●
238. 28648912 c.2456G>A p.C819Y missense 0.00000824●●●●●●
239. 28648880 c.2488A>C p.T830P missense 0.00000824●●●●●●
240. 28651579 c.2117T>C p.L706S missense 0.00000824●●●●●●
241. 28669413 c.619G>C p.E207Q missense 0.00000824●●●●●●
242. 28660113 c.1469G>A p.S490N missense 0.00000824●●●●●●
243. 28673534 c.142C>T p.L48F missense 0.00000824●●●●●●
244. 28666621 c.860A>G p.Q287R missense 0.00000824●●●●●●
245. 28659883 c.1593A>C p.R531S missense 0.00000824●●●●●●
246. 28648976 c.2392C>T p.R798W missense 0.00000824●●●●●●
247. 28648939 c.2429G>C p.R810T missense 0.00000824●●●●●●
248. 28660171 c.1411T>A p.C471S missense 0.00000824●●●●●●
249. 28648150 c.2537A>G p.N846S missense 0.00000824●●●●●●
250. 28659933 c.1543A>T p.T515S missense 0.00000824●●●●●●
251. 28659844 c.1632A>G p.I544M missense 0.00000824●●●●●●
252. 28650705 c.2237G>A p.G746E missense 0.00000824●●●●●●
253. 28660105 c.1477T>C p.Y493H missense 0.00000824●●●●●●
254. 28666601 c.880C>A p.L294I missense 0.00000824●●●●●●
255. 28649012 c.2356A>G p.M786V missense 0.00000824●●●●●●
256. 28649017 c.2351T>C p.I784T missense 0.00000824●●●●●●
257. 28648917 c.2451C>G p.D817E missense 0.00000824●●●●●●
258. 28648893 c.2475G>C p.E825D missense 0.00000824●●●●●●
259. 28648099 c.2588G>A p.G863E missense 0.00000824●●●●●●
260. 28669431 c.601G>A p.V201I missense 0.00000824●●●●●●
261. 28666621 c.860A>C p.Q287P missense 0.00000824●●●●●●
262. 28659924 c.1552G>T p.V518F missense 0.00000824●●●●●●
263. 28650790 c.2152G>T p.A718S missense 0.00000824●●●●●●
264. 28650741 c.2201A>C p.Q734P missense 0.00000824●●●●●●
265. 28659818 c.1658A>G p.D553G missense 0.00000824●●●●●●
266. 28648949 c.2419G>C p.D807H missense 0.00000824●●●●●●
267. 28648874 c.2494C>A p.P832T missense 0.00000824●●●●●●
268. 28660185 c.1397A>G p.D466G missense 0.00000824●●●●●●
269. 28660258 c.1324C>T p.P442S missense 0.00000824●●●●●●
270. 28659856 c.1620C>G p.I540M missense 0.00000824●●●●●●
271. 28650711 c.2231C>T p.A744V missense 0.00000824●●●●●●
272. 28660228 c.1354G>T p.A452S missense 0.00000824●●●●●●
273. 28648141 c.2546A>C p.H849P missense 0.00000824●●●●●●
274. 28673522 c.154G>A p.V52I missense 0.00000824●●●●●●
275. 28666609 c.872C>T p.S291L missense 0.00000824●●●●●●
276. 28649050 c.2318G>C p.G773A missense 0.00000824●●●●●●
277. 28648906 c.2462A>T p.Y821F missense 0.00000824●●●●●●
278. 28660146 c.1436G>C p.R479P missense 0.00000824●●●●●●
279. 28648111 c.2576A>G p.Y859C missense 0.00000824●●●●●●
280. 28648090 c.2597C>G p.A866G missense 0.00000824●●●●●●
281. 28666625 c.856G>A p.G286R missense 0.00000824●●●●●●
282. 28659924 c.1552G>A p.V518I missense 0.00000824●●●●●●
283. 28648898 c.2470T>G p.S824A missense 0.00000824●●●●●●
284. 28648871 c.2497C>G p.R833G missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.