LDB3 protein-altering variants in ExAC

LDB3 gene summary
LDB3 variants in DCM

The table below lists the LDB3 protein-altering 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. 88476492 c.1640G>A p.R547Q missense 0.00009751●●●●●●
2. 88466427 c.1036G>A p.A346T missense 0.00009476●●●●●●
3. 88466383 c.992C>T p.A331V missense 0.00009239●●●●●●
4. 88476282 c.1430A>G p.Y477C missense 0.00009100●●●●●●
5. 88477867 c.1823C>T p.P608L missense 0.00009061●●●●●●
6. 88441421 c.550A>G p.K184E missense 0.00008435●●●●●●
7. 88476164 c.1312A>G p.T438A missense 0.00008327●●●●●●
8. 88476263 c.1411C>T p.P471S missense 0.00008286●●●●●●
9. 88476294 c.1442C>G p.P481R missense 0.00008270●●●●●●
10. 88476339 c.1487T>C p.F496S missense 0.00008264●●●●●●
11. 88476527 c.1675C>T p.R559W missense 0.00008256●●●●●●
12. 88441215 c.344G>A p.G115D missense 0.00007732●●●●●●
13. 88466346 c.955G>A p.A319T missense 0.00007544●●●●●●
14. 88476287 c.1435G>A p.G479R missense 0.00007445●●●●●●
15. 88476189 c.1337C>A p.T446N missense 0.00007335●●●●●●
16. 88466466 c.1075G>A p.D359N missense 0.00006983●●●●●●
17. 88441397 c.526G>A p.G176R missense 0.00006840●●●●●●
18. 88441403 c.532C>G p.R178G missense 0.00006825●●●●●●
19. 88476491 c.1639C>T p.R547W missense 0.00006774●●●●●●
20. 88478536 c.1910C>T p.A637V missense 0.00006594●●●●●●
21. 88492699 c.2150T>G p.L717R missense 0.00006163●●●●●●
22. 88428539 c.91C>T p.R31W missense 0.00005898●●●●●●
23. 88441452 c.581A>T p.Q194L missense 0.00005846●●●●●●
24. 88451732 c.769G>C p.E257Q missense 0.00005771●●●●●●
25. 88478530 c.1904T>G p.V635G missense 0.00005769●●●●●●
26. 88441547 c.676G>A p.G226R missense 0.00005316●●●●●●
27. 88441527 c.656G>A p.R219Q missense 0.00005228●●●●●●
28. 88485965 c.2050G>A p.E684K missense 0.00004945●●●●●●
29. 88477842 c.1798C>T p.R600X nonsense 0.00004942●●●●●●
30. 88476506 c.1654G>A p.G552S missense 0.00004447●●●●●●
31. 88466392 c.1001C>A p.P334Q missense 0.00004202●●●●●●
32. 88466335 c.944C>T p.P315L missense 0.00004190●●●●●●
33. 88451687 c.724G>A p.A242T missense 0.00004123●●●●●●
34. 88439190 c.160G>A p.G54S missense 0.00004122●●●●●●
35. 88476165 c.1313C>A p.T438N missense 0.00003831●●●●●●
36. 88492723 c.2174T>C p.I725T missense 0.00003703●●●●●●
37. 88441539 c.668C>T p.S223L missense 0.00003519●●●●●●
38. 88441526 c.655C>T p.R219X nonsense 0.00003486●●●●●●
39. 88441340 c.469G>C p.E157Q missense 0.00003448●●●●●●
40. 88441278 c.407C>T p.P136L missense 0.00003433●●●●●●
41. 88441269 c.398C>T p.P133L missense 0.00003433●●●●●●
42. 88441258 c.387_395delCCCAGGCAC p.Pro130_Thr132del inframe 0.00003433●●●●●●
43. 88441404 c.533G>A p.R178Q missense 0.00003408●●●●●●
44. 88466409 c.1018G>C p.A340P missense 0.00003373●●●●●●
45. 88466296 c.905T>C p.I302T missense 0.00003355●●●●●●
46. 88428502 c.54G>T p.Q18H missense 0.00003337●●●●●●
47. 88478598 c.1972G>A p.E658K missense 0.00003311●●●●●●
48. 88476324 c.1472T>A p.V491E missense 0.00003305●●●●●●
49. 88478583 c.1957G>A p.G653R missense 0.00003303●●●●●●
50. 88439865 c.272C>T p.T91M missense 0.00003299●●●●●●
51. 88439873 c.280C>A p.P94T missense 0.00003299●●●●●●
52. 88477747 c.1703G>A p.R568H missense 0.00003296●●●●●●
53. 88485941 c.2026G>A p.V676M missense 0.00003296●●●●●●
54. 88477843 c.1799G>A p.R600Q missense 0.00003295●●●●●●
55. 88476528 c.1676G>A p.R559Q missense 0.00002780●●●●●●
56. 88492723 c.2174T>A p.I725N missense 0.00002778●●●●●●
57. 88441517 c.646A>T p.M216L missense 0.00002596●●●●●●
58. 88441365 c.494G>A p.R165Q missense 0.00002590●●●●●●
59. 88441214 c.343G>C p.G115R missense 0.00002577●●●●●●
60. 88441209 c.338C>T p.T113M missense 0.00002577●●●●●●
61. 88441283 c.412C>G p.L138V missense 0.00002574●●●●●●
62. 88441415 c.544G>A p.G182S missense 0.00002538●●●●●●
63. 88441479 c.608C>T p.S203L missense 0.00002530●●●●●●
64. 88466398 c.1007delT p.Leu336ArgfsTer156 frameshift 0.00002522●●●●●●
65. 88428461 c.13_14insTGACCC p.Val5_Thr6insThrLeu inframe 0.00002498●●●●●●
66. 88476255 c.1403A>G p.N468S missense 0.00002488●●●●●●
67. 88451808 c.845C>T p.T282M missense 0.00002486●●●●●●
68. 88476381 c.1529G>A p.S510N missense 0.00002482●●●●●●
69. 88476297 c.1445C>T p.A482V missense 0.00002481●●●●●●
70. 88476354 c.1502C>T p.A501V missense 0.00002479●●●●●●
71. 88476338 c.1486T>G p.F496V missense 0.00002479●●●●●●
72. 88485989 c.2074G>A p.D692N missense 0.00002476●●●●●●
73. 88451780 c.817C>T p.R273C missense 0.00002476●●●●●●
74. 88439846 c.253C>T p.R85C missense 0.00002474●●●●●●
75. 88477740 c.1696A>G p.M566V missense 0.00002473●●●●●●
76. 88439175 c.145G>A p.V49M missense 0.00002473●●●●●●
77. 88439175 c.145G>C p.V49L missense 0.00002473●●●●●●
78. 88477758 c.1714C>A p.P572T missense 0.00002472●●●●●●
79. 88477830 c.1786G>A p.V596I missense 0.00002471●●●●●●
80. 88452319 c.887G>A p.R296Q missense 0.00002471●●●●●●
81. 88476168 c.1316C>T p.P439L missense 0.00002106●●●●●●
82. 88476164 c.1312A>C p.T438P missense 0.00002082●●●●●●
83. 88476173 c.1321C>T p.P441S missense 0.00002011●●●●●●
84. 88476140 c.1288A>G p.T430A missense 0.00001807●●●●●●
85. 88469796 c.1220T>C p.V407A missense 0.00001765●●●●●●
86. 88492675 c.2126T>C p.F709S missense 0.00001763●●●●●●
87. 88492683 c.2134_2136delAAG p.Lys712del inframe 0.00001756●●●●●●
88. 88476141 c.1289C>T p.T430I missense 0.00001755●●●●●●
89. 88441362 c.491C>T p.P164L missense 0.00001731●●●●●●
90. 88441379 c.508G>A p.A170T missense 0.00001720●●●●●●
91. 88441322 c.451G>A p.A151T missense 0.00001719●●●●●●
92. 88441229 c.358C>A p.P120T missense 0.00001719●●●●●●
93. 88441239 c.368G>A p.S123N missense 0.00001718●●●●●●
94. 88441244 c.373G>A p.E125K missense 0.00001718●●●●●●
95. 88441314 c.443G>A p.R148Q missense 0.00001718●●●●●●
96. 88441266 c.395C>T p.T132I missense 0.00001718●●●●●●
97. 88441199 c.328G>A p.A110T missense 0.00001716●●●●●●
98. 88441293 c.422C>T p.T141I missense 0.00001714●●●●●●
99. 88441396 c.525G>C p.E175D missense 0.00001711●●●●●●
100. 88469691 c.1115T>C p.V372A missense 0.00001705●●●●●●
101. 88469706 c.1130C>T p.A377V missense 0.00001702●●●●●●
102. 88441486 c.615G>C p.E205D missense 0.00001695●●●●●●
103. 88441431 c.560C>A p.P187Q missense 0.00001682●●●●●●
104. 88466382 c.991G>A p.A331T missense 0.00001680●●●●●●
105. 88439915 c.321+1G>A essential splice site 0.00001679●●●●●●
106. 88466305 c.914C>A p.A305E missense 0.00001677●●●●●●
107. 88466331 c.940A>G p.T314A missense 0.00001676●●●●●●
108. 88476108 c.1256C>A p.S419Y missense 0.00001672●●●●●●
109. 88441446 c.575C>T p.P192L missense 0.00001672●●●●●●
110. 88476234 c.1382A>C p.Y461S missense 0.00001671●●●●●●
111. 88441453 c.582A>C p.Q194H missense 0.00001670●●●●●●
112. 88428504 c.56G>C p.G19A missense 0.00001668●●●●●●
113. 88428461 c.13G>A p.V5M missense 0.00001665●●●●●●
114. 88476399 c.1547G>A p.R516Q missense 0.00001658●●●●●●
115. 88476398 c.1546C>T p.R516W missense 0.00001658●●●●●●
116. 88477720 c.1677-1G>A essential splice site 0.00001655●●●●●●
117. 88476372 c.1520C>A p.T507N missense 0.00001654●●●●●●
118. 88476345 c.1493A>G p.Q498R missense 0.00001653●●●●●●
119. 88478583 c.1957G>C p.G653R missense 0.00001652●●●●●●
120. 88451792 c.829A>T p.I277F missense 0.00001652●●●●●●
121. 88439889 c.296C>T p.P99L missense 0.00001652●●●●●●
122. 88439874 c.281C>T p.P94L missense 0.00001650●●●●●●
123. 88439847 c.254G>A p.R85H missense 0.00001649●●●●●●
124. 88451760 c.797G>A p.R266H missense 0.00001649●●●●●●
125. 88485915 c.2000C>T p.T667I missense 0.00001649●●●●●●
126. 88451676 c.713C>A p.A238D missense 0.00001649●●●●●●
127. 88477888 c.1844C>G p.T615S missense 0.00001648●●●●●●
128. 88478511 c.1885T>C p.W629R missense 0.00001648●●●●●●
129. 88477833 c.1789T>A p.Y597N missense 0.00001647●●●●●●
130. 88476519 c.1667A>G p.N556S missense 0.00001248●●●●●●
131. 88476507 c.1655G>T p.G552V missense 0.00001116●●●●●●
132. 88476506 c.1654G>C p.G552R missense 0.00001112●●●●●●
133. 88476489 c.1637G>A p.S546N missense 0.00000957●●●●●●
134. 88466457 c.1066A>C p.S356R missense 0.00000933●●●●●●
135. 88492651 c.2102A>G p.H701R missense 0.00000928●●●●●●
136. 88492653 c.2104G>T p.V702L missense 0.00000923●●●●●●
137. 88476144 c.1292C>A p.P431H missense 0.00000905●●●●●●
138. 88476140 c.1288A>T p.T430S missense 0.00000903●●●●●●
139. 88492712 c.2163C>A p.H721Q missense 0.00000896●●●●●●
140. 88492666 c.2117G>T p.G706V missense 0.00000895●●●●●●
141. 88441561 c.689+1G>A essential splice site 0.00000893●●●●●●
142. 88492668 c.2119C>T p.Q707X nonsense 0.00000892●●●●●●
143. 88492705 c.2156A>C p.K719T missense 0.00000887●●●●●●
144. 88492672 c.2123C>T p.P708L missense 0.00000886●●●●●●
145. 88476473 c.1621C>T p.R541X nonsense 0.00000881●●●●●●
146. 88492680 c.2131T>G p.S711A missense 0.00000879●●●●●●
147. 88476141 c.1289C>A p.T430N missense 0.00000878●●●●●●
148. 88469786 c.1210C>T p.R404W missense 0.00000874●●●●●●
149. 88469786 c.1210C>G p.R404G missense 0.00000874●●●●●●
150. 88476213 c.1361C>T p.T454I missense 0.00000872●●●●●●
151. 88441367 c.496G>T p.A166S missense 0.00000863●●●●●●
152. 88469763 c.1187G>A p.R396Q missense 0.00000863●●●●●●
153. 88441340 c.469G>A p.E157K missense 0.00000862●●●●●●
154. 88441343 c.472G>T p.A158S missense 0.00000862●●●●●●
155. 88441343 c.472G>A p.A158T missense 0.00000862●●●●●●
156. 88441380 c.509C>T p.A170V missense 0.00000860●●●●●●
157. 88441506 c.635A>T p.Q212L missense 0.00000860●●●●●●
158. 88469736 c.1160G>T p.G387V missense 0.00000859●●●●●●
159. 88441384 c.513G>T p.K171N missense 0.00000859●●●●●●
160. 88441227 c.356C>T p.A119V missense 0.00000859●●●●●●
161. 88441248 c.377C>G p.A126G missense 0.00000859●●●●●●
162. 88441289 c.418C>G p.P140A missense 0.00000859●●●●●●
163. 88441304 c.433G>T p.A145S missense 0.00000858●●●●●●
164. 88469742 c.1166C>G p.A389G missense 0.00000858●●●●●●
165. 88441286 c.415A>G p.R139G missense 0.00000858●●●●●●
166. 88441280 c.409G>A p.E137K missense 0.00000858●●●●●●
167. 88441268 c.397C>T p.P133S missense 0.00000858●●●●●●
168. 88441299 c.428G>T p.S143I missense 0.00000857●●●●●●
169. 88441391 c.520C>T p.P174S missense 0.00000857●●●●●●
170. 88469729 c.1153A>G p.S385G missense 0.00000854●●●●●●
171. 88469728 c.1152C>A p.Y384X nonsense 0.00000854●●●●●●
172. 88469723 c.1147A>G p.S383G missense 0.00000853●●●●●●
173. 88441496 c.625G>C p.E209Q missense 0.00000853●●●●●●
174. 88441403 c.532C>T p.R178W missense 0.00000853●●●●●●
175. 88469709 c.1133C>T p.P378L missense 0.00000851●●●●●●
176. 88469696 c.1120G>A p.A374T missense 0.00000851●●●●●●
177. 88469670 c.1094C>T p.A365V missense 0.00000850●●●●●●
178. 88441490 c.619C>G p.L207V missense 0.00000849●●●●●●
179. 88466418 c.1027A>G p.T343A missense 0.00000849●●●●●●
180. 88476224 c.1372G>A p.A458T missense 0.00000846●●●●●●
181. 88441485 c.614A>C p.E205A missense 0.00000846●●●●●●
182. 88476453 c.1601G>T p.G534V missense 0.00000844●●●●●●
183. 88466407 c.1016C>G p.A339G missense 0.00000843●●●●●●
184. 88476225 c.1373C>G p.A458G missense 0.00000843●●●●●●
185. 88441428 c.557T>C p.L186P missense 0.00000842●●●●●●
186. 88466383 c.992C>A p.A331E missense 0.00000840●●●●●●
187. 88476126 c.1274G>A p.S425N missense 0.00000840●●●●●●
188. 88466388 c.997T>A p.S333T missense 0.00000840●●●●●●
189. 88466305 c.914C>G p.A305G missense 0.00000839●●●●●●
190. 88466358 c.967C>T p.P323S missense 0.00000839●●●●●●
191. 88466361 c.970C>T p.P324S missense 0.00000839●●●●●●
192. 88466362 c.971C>T p.P324L missense 0.00000839●●●●●●
193. 88476121 c.1269T>G p.N423K missense 0.00000838●●●●●●
194. 88466336 c.945_972delGCTGCTGCCCGCTTCTGCCCAGCCACCT p.Ala319LeufsTer164 frameshift 0.00000838●●●●●●
195. 88428524 c.76C>T p.P26S missense 0.00000837●●●●●●
196. 88476105 c.1253C>T p.P418L missense 0.00000836●●●●●●
197. 88476237 c.1385C>T p.T462I missense 0.00000834●●●●●●
198. 88428503 c.55G>C p.G19R missense 0.00000834●●●●●●
199. 88428491 c.43T>C p.F15L missense 0.00000833●●●●●●
200. 88428479 c.31G>A p.G11R missense 0.00000833●●●●●●
201. 88428459 c.11G>A p.S4N missense 0.00000833●●●●●●
202. 88476249 c.1397C>T p.A466V missense 0.00000830●●●●●●
203. 88476399 c.1547G>T p.R516L missense 0.00000829●●●●●●
204. 88476266 c.1414G>C p.A472P missense 0.00000828●●●●●●
205. 88476390 c.1538C>A p.T513N missense 0.00000828●●●●●●
206. 88476270 c.1418C>A p.P473H missense 0.00000828●●●●●●
207. 88476392 c.1540C>G p.L514V missense 0.00000828●●●●●●
208. 88478599 c.1973A>G p.E658G missense 0.00000828●●●●●●
209. 88476389 c.1537A>G p.T513A missense 0.00000828●●●●●●
210. 88478599 c.1973A>C p.E658A missense 0.00000828●●●●●●
211. 88476366 c.1514G>A p.S505N missense 0.00000827●●●●●●
212. 88476291 c.1439G>A p.G480D missense 0.00000827●●●●●●
213. 88476279 c.1427C>T p.A476V missense 0.00000827●●●●●●
214. 88476368 c.1516delA p.Thr506ProfsTer59 frameshift 0.00000827●●●●●●
215. 88476290 c.1438G>A p.G480S missense 0.00000827●●●●●●
216. 88476332 c.1480G>A p.D494N missense 0.00000826●●●●●●
217. 88451790 c.827G>A p.R276H missense 0.00000826●●●●●●
218. 88478584 c.1958G>A p.G653E missense 0.00000826●●●●●●
219. 88476317 c.1465C>T p.P489S missense 0.00000826●●●●●●
220. 88439242 c.212C>G p.S71C missense 0.00000826●●●●●●
221. 88478580 c.1954G>C p.D652H missense 0.00000826●●●●●●
222. 88476323 c.1471G>A p.V491M missense 0.00000826●●●●●●
223. 88478589 c.1963C>A p.P655T missense 0.00000826●●●●●●
224. 88451789 c.826C>T p.R276C missense 0.00000826●●●●●●
225. 88476357 c.1505C>T p.P502L missense 0.00000826●●●●●●
226. 88451663 c.700A>G p.I234V missense 0.00000825●●●●●●
227. 88439214 c.184C>T p.H62Y missense 0.00000825●●●●●●
228. 88478564 c.1938C>A p.S646R missense 0.00000825●●●●●●
229. 88451763 c.800C>T p.S267F missense 0.00000825●●●●●●
230. 88439127 c.97A>T p.T33S missense 0.00000825●●●●●●
231. 88451747 c.784G>A p.E262K missense 0.00000825●●●●●●
232. 88451664 c.701T>A p.I234N missense 0.00000825●●●●●●
233. 88439208 c.178A>T p.M60L missense 0.00000825●●●●●●
234. 88451673 c.710T>G p.L237R missense 0.00000825●●●●●●
235. 88451781 c.818G>A p.R273H missense 0.00000825●●●●●●
236. 88451759 c.796C>T p.R266C missense 0.00000825●●●●●●
237. 88439883 c.290A>G p.Q97R missense 0.00000825●●●●●●
238. 88451753 c.790G>A p.A264T missense 0.00000825●●●●●●
239. 88451678 c.715G>T p.V239L missense 0.00000825●●●●●●
240. 88477730 c.1686T>A p.F562L missense 0.00000825●●●●●●
241. 88451658 c.695T>G p.L232R missense 0.00000825●●●●●●
242. 88439211 c.181A>C p.T61P missense 0.00000825●●●●●●
243. 88478545 c.1919A>G p.K640R missense 0.00000824●●●●●●
244. 88451705 c.742G>A p.A248T missense 0.00000824●●●●●●
245. 88439197 c.167A>G p.N56S missense 0.00000824●●●●●●
246. 88478520 c.1894A>G p.T632A missense 0.00000824●●●●●●
247. 88478508 c.1882delA p.Thr628HisfsTer75 frameshift 0.00000824●●●●●●
248. 88477826 c.1782C>A p.N594K missense 0.00000824●●●●●●
249. 88477784 c.1740C>A p.C580X nonsense 0.00000824●●●●●●
250. 88451696 c.733G>A p.V245I missense 0.00000824●●●●●●
251. 88452328 c.896G>A p.S299N missense 0.00000824●●●●●●
252. 88451741 c.778G>A p.A260T missense 0.00000824●●●●●●
253. 88451727 c.764_765insGCCAGAACAT p.Asp258HisfsTer5 frameshift 0.00000824●●●●●●
254. 88451707 c.744_745delTG p.Val249AspfsTer2 frameshift 0.00000824●●●●●●
255. 88485917 c.2002A>G p.K668E missense 0.00000824●●●●●●
256. 88452300 c.868C>A p.P290T missense 0.00000824●●●●●●
257. 88478529 c.1903G>T p.V635F missense 0.00000824●●●●●●
258. 88478484 c.1858G>A p.E620K missense 0.00000824●●●●●●
259. 88485941 c.2026delG p.Val676TrpfsTer27 frameshift 0.00000824●●●●●●
260. 88477785 c.1741A>C p.K581Q missense 0.00000824●●●●●●
261. 88485977 c.2062C>T p.H688Y missense 0.00000824●●●●●●
262. 88439142 c.112G>A p.A38T missense 0.00000824●●●●●●
263. 88451727 c.764A>G p.K255R missense 0.00000824●●●●●●
264. 88451731 c.768_770delAGA p.Glu257del inframe 0.00000824●●●●●●
265. 88477755 c.1711C>T p.H571Y missense 0.00000824●●●●●●
266. 88485944 c.2029G>A p.E677K missense 0.00000824●●●●●●
267. 88452301 c.869C>T p.P290L missense 0.00000824●●●●●●
268. 88478539 c.1913C>A p.A638D missense 0.00000824●●●●●●
269. 88477789 c.1745C>G p.T582S missense 0.00000824●●●●●●
270. 88477833 c.1789T>C p.Y597H missense 0.00000824●●●●●●
271. 88439166 c.136G>T p.G46C missense 0.00000824●●●●●●
272. 88477887 c.1843A>G p.T615A missense 0.00000824●●●●●●
273. 88452309 c.877G>T p.E293X nonsense 0.00000824●●●●●●
274. 88477780 c.1736A>G p.Y579C missense 0.00000824●●●●●●
275. 88485964 c.2049C>G p.I683M 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.