TMEM43 missense variants in ExAC

TMEM43 gene summary
TMEM43 variants in DCM

The table below lists the TMEM43 missense variants found in the ExAC population database. 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. 14175262 c.536T>C p.M179T missense 0.37236584●●●●●●
2. 14174427 c.504A>T p.K168N missense 0.32086637●●●●●●
3. 14180731 c.934C>T p.R312W missense 0.00904567●●●●●●
4. 14170981 c.82C>T p.R28W missense 0.00289136●●●●●●
5. 14176384 c.698A>G p.Y233C missense 0.00204428●●●●●●
6. 14180750 c.953C>T p.A318V missense 0.00185353●●●●●●
7. 14183188 c.1096G>A p.A366T missense 0.00168106●●●●●●
8. 14177355 c.829A>T p.T277S missense 0.00096538●●●●●●
9. 14183203 c.1111T>C p.Y371H missense 0.00078303●●●●●●
10. 14170988 c.89G>A p.S30N missense 0.00053548●●●●●●
11. 14180693 c.896G>C p.R299T missense 0.00052730●●●●●●
12. 14174077 c.424G>A p.E142K missense 0.00048672●●●●●●
13. 14183153 c.1061G>C p.C354S missense 0.00046133●●●●●●
14. 14172445 c.286C>G p.R96G missense 0.00022568●●●●●●
15. 14172323 c.164G>A p.G55D missense 0.00022350●●●●●●
16. 14180744 c.947G>C p.W316S missense 0.00020594●●●●●●
17. 14176378 c.692C>T p.P231L missense 0.00018959●●●●●●
18. 14173105 c.323T>C p.V108A missense 0.00015898●●●●●●
19. 14176670 c.718C>T p.R240C missense 0.00014192●●●●●●
20. 14177328 c.802C>T p.R268W missense 0.00014048●●●●●●
21. 14176287 c.601G>A p.D201N missense 0.00012359●●●●●●
22. 14177391 c.865G>A p.G289R missense 0.00011561●●●●●●
23. 14183177 c.1085T>G p.L362R missense 0.00011535●●●●●●
24. 14183197 c.1105C>T p.L369F missense 0.00010714●●●●●●
25. 14174411 c.488G>A p.R163Q missense 0.00010709●●●●●●
26. 14172424 c.265G>A p.V89M missense 0.00009134●●●●●●
27. 14170930 c.31C>T p.R11W missense 0.00009065●●●●●●
28. 14174056 c.403G>A p.E135K missense 0.00008248●●●●●●
29. 14174066 c.413A>G p.Q138R missense 0.00008248●●●●●●
30. 14174407 c.484G>A p.D162N missense 0.00008238●●●●●●
31. 14173129 c.347G>A p.R116Q missense 0.00007555●●●●●●
32. 14177323 c.797G>A p.R266Q missense 0.00007440●●●●●●
33. 14177322 c.796C>T p.R266W missense 0.00006614●●●●●●
34. 14170990 c.91G>A p.E31K missense 0.00006590●●●●●●
35. 14172439 c.280G>A p.A94T missense 0.00005837●●●●●●
36. 14172430 c.271A>G p.I91V missense 0.00005820●●●●●●
37. 14172365 c.206C>T p.S69L missense 0.00005789●●●●●●
38. 14177329 c.803G>T p.R268L missense 0.00005783●●●●●●
39. 14183242 c.1150C>G p.L384V missense 0.00005778●●●●●●
40. 14172446 c.287G>C p.R96P missense 0.00005022●●●●●●
41. 14172325 c.166C>T p.R56C missense 0.00004966●●●●●●
42. 14172328 c.169G>A p.A57T missense 0.00004964●●●●●●
43. 14176365 c.679C>G p.H227D missense 0.00004946●●●●●●
44. 14171020 c.121A>G p.M41V missense 0.00004943●●●●●●
45. 14173119 c.337G>A p.V113M missense 0.00004181●●●●●●
46. 14176700 c.748G>A p.G250S missense 0.00004179●●●●●●
47. 14172404 c.245C>T p.P82L missense 0.00004141●●●●●●
48. 14172326 c.167G>A p.R56H missense 0.00004137●●●●●●
49. 14177379 c.853C>A p.L285I missense 0.00004126●●●●●●
50. 14176347 c.661C>T p.R221C missense 0.00004121●●●●●●
51. 14176345 c.659G>A p.R220H missense 0.00004121●●●●●●
52. 14173143 c.361A>G p.M121V missense 0.00003378●●●●●●
53. 14173092 c.310C>G p.P104A missense 0.00003363●●●●●●
54. 14172446 c.287G>A p.R96Q missense 0.00003348●●●●●●
55. 14176694 c.742C>A p.L248M missense 0.00003339●●●●●●
56. 14176671 c.719G>A p.R240H missense 0.00003338●●●●●●
57. 14172428 c.269A>G p.H90R missense 0.00003324●●●●●●
58. 14183251 c.1159A>G p.I387V missense 0.00003305●●●●●●
59. 14174081 c.428C>T p.T143M missense 0.00003302●●●●●●
60. 14176344 c.658C>T p.R220C missense 0.00003297●●●●●●
61. 14170997 c.98C>T p.S33L missense 0.00003295●●●●●●
62. 14180711 c.914C>A p.S305Y missense 0.00003295●●●●●●
63. 14183151 c.1059C>G p.F353L missense 0.00003295●●●●●●
64. 14173126 c.344T>C p.L115P missense 0.00002511●●●●●●
65. 14176695 c.743T>C p.L248P missense 0.00002506●●●●●●
66. 14176670 c.718C>G p.R240G missense 0.00002504●●●●●●
67. 14172403 c.244C>G p.P82A missense 0.00002484●●●●●●
68. 14174093 c.440A>T p.Y147F missense 0.00002477●●●●●●
69. 14176340 c.654C>G p.I218M missense 0.00002473●●●●●●
70. 14176350 c.664G>A p.G222R missense 0.00002473●●●●●●
71. 14183204 c.1112A>G p.Y371C missense 0.00002473●●●●●●
72. 14176332 c.646G>T p.V216L missense 0.00002472●●●●●●
73. 14175304 c.578C>G p.S193W missense 0.00002471●●●●●●
74. 14183114 c.1022G>A p.R341Q missense 0.00002471●●●●●●
75. 14183134 c.1042C>G p.L348V missense 0.00002471●●●●●●
76. 14176730 c.778G>A p.V260M missense 0.00001710●●●●●●
77. 14176724 c.772G>C p.A258P missense 0.00001697●●●●●●
78. 14173137 c.355G>A p.V119M missense 0.00001682●●●●●●
79. 14173134 c.352C>T p.H118Y missense 0.00001679●●●●●●
80. 14173128 c.346C>T p.R116W missense 0.00001676●●●●●●
81. 14176703 c.751G>A p.D251N missense 0.00001674●●●●●●
82. 14172440 c.281C>T p.A94V missense 0.00001668●●●●●●
83. 14183269 c.1177C>T p.R393W missense 0.00001668●●●●●●
84. 14183270 c.1178G>A p.R393Q missense 0.00001668●●●●●●
85. 14172434 c.275T>C p.I92T missense 0.00001664●●●●●●
86. 14172367 c.208C>T p.L70F missense 0.00001654●●●●●●
87. 14174059 c.406G>A p.D136N missense 0.00001650●●●●●●
88. 14177371 c.845C>A p.T282N missense 0.00001650●●●●●●
89. 14176386 c.700C>T p.P234S missense 0.00001649●●●●●●
90. 14174054 c.401C>A p.T134N missense 0.00001649●●●●●●
91. 14183207 c.1115G>A p.R372Q missense 0.00001649●●●●●●
92. 14180691 c.894T>G p.H298Q missense 0.00001648●●●●●●
93. 14170930 c.31C>G p.R11G missense 0.00001648●●●●●●
94. 14183118 c.1026C>A p.D342E missense 0.00001648●●●●●●
95. 14176332 c.646G>A p.V216M missense 0.00001648●●●●●●
96. 14170939 c.40C>T p.H14Y missense 0.00001648●●●●●●
97. 14174420 c.497G>C p.G166A missense 0.00001648●●●●●●
98. 14176331 c.645T>G p.H215Q missense 0.00001648●●●●●●
99. 14183126 c.1034A>G p.N345S missense 0.00001648●●●●●●
100. 14180780 c.983G>A p.R328Q missense 0.00001647●●●●●●
101. 14180753 c.956T>C p.M319T missense 0.00001647●●●●●●
102. 14180774 c.977T>C p.M326T missense 0.00001647●●●●●●
103. 14180779 c.982C>T p.R328W missense 0.00001647●●●●●●
104. 14166694 c.1A>G p.Met1? missense 0.00001088●●●●●●
105. 14166695 c.2T>A p.Met1? missense 0.00001088●●●●●●
106. 14173170 c.388T>C p.S130P missense 0.00000871●●●●●●
107. 14173081 c.299T>A p.L100H missense 0.00000852●●●●●●
108. 14172455 c.296A>G p.K99R missense 0.00000840●●●●●●
109. 14176710 c.758C>G p.P253R missense 0.00000840●●●●●●
110. 14173099 c.317A>G p.Y106C missense 0.00000838●●●●●●
111. 14173114 c.332C>T p.P111L missense 0.00000836●●●●●●
112. 14176671 c.719G>C p.R240P missense 0.00000835●●●●●●
113. 14183272 c.1180G>A p.V394M missense 0.00000835●●●●●●
114. 14176686 c.734A>G p.Y245C missense 0.00000834●●●●●●
115. 14176673 c.721G>A p.V241I missense 0.00000834●●●●●●
116. 14176677 c.725C>T p.S242F missense 0.00000834●●●●●●
117. 14176683 c.731C>T p.S244F missense 0.00000834●●●●●●
118. 14172432 c.273C>G p.I91M missense 0.00000832●●●●●●
119. 14183264 c.1172G>A p.R391Q missense 0.00000831●●●●●●
120. 14172424 c.265G>C p.V89L missense 0.00000830●●●●●●
121. 14172412 c.253G>A p.E85K missense 0.00000829●●●●●●
122. 14172410 c.251A>G p.N84S missense 0.00000829●●●●●●
123. 14172416 c.257G>A p.G86E missense 0.00000829●●●●●●
124. 14172373 c.214G>A p.V72M missense 0.00000827●●●●●●
125. 14172328 c.169G>T p.A57S missense 0.00000827●●●●●●
126. 14172350 c.191T>G p.L64W missense 0.00000827●●●●●●
127. 14172359 c.200G>C p.G67A missense 0.00000827●●●●●●
128. 14172387 c.228C>G p.S76R missense 0.00000827●●●●●●
129. 14170912 c.13T>C p.Y5H missense 0.00000826●●●●●●
130. 14174086 c.433T>C p.Y145H missense 0.00000826●●●●●●
131. 14177329 c.803G>A p.R268Q missense 0.00000826●●●●●●
132. 14177388 c.862C>T p.H288Y missense 0.00000826●●●●●●
133. 14183233 c.1141G>A p.G381S missense 0.00000825●●●●●●
134. 14170913 c.14A>G p.Y5C missense 0.00000825●●●●●●
135. 14170916 c.17C>G p.S6C missense 0.00000825●●●●●●
136. 14171061 c.162G>C p.E54D missense 0.00000825●●●●●●
137. 14174063 c.410G>C p.G137A missense 0.00000825●●●●●●
138. 14177370 c.844A>C p.T282P missense 0.00000825●●●●●●
139. 14177379 c.853C>T p.L285F missense 0.00000825●●●●●●
140. 14183224 c.1132C>G p.L378V missense 0.00000825●●●●●●
141. 14183227 c.1135A>G p.I379V missense 0.00000825●●●●●●
142. 14183236 c.1144C>G p.L382V missense 0.00000825●●●●●●
143. 14183242 c.1150C>T p.L384F missense 0.00000825●●●●●●
144. 14183105 c.1013C>T p.P338L missense 0.00000824●●●●●●
145. 14171035 c.136T>C p.S46P missense 0.00000824●●●●●●
146. 14176332 c.646G>C p.V216L missense 0.00000824●●●●●●
147. 14170920 c.21T>G p.S7R missense 0.00000824●●●●●●
148. 14170948 c.49G>A p.V17I missense 0.00000824●●●●●●
149. 14175244 c.518T>C p.M173T missense 0.00000824●●●●●●
150. 14180770 c.973C>T p.L325F missense 0.00000824●●●●●●
151. 14183120 c.1028T>C p.L343P missense 0.00000824●●●●●●
152. 14170931 c.32G>A p.R11Q missense 0.00000824●●●●●●
153. 14175241 c.515C>T p.A172V missense 0.00000824●●●●●●
154. 14176345 c.659G>T p.R220L missense 0.00000824●●●●●●
155. 14180702 c.905G>C p.R302T missense 0.00000824●●●●●●
156. 14183102 c.1010T>A p.F337Y missense 0.00000824●●●●●●
157. 14170936 c.37G>A p.E13K missense 0.00000824●●●●●●
158. 14170946 c.47A>G p.K16R missense 0.00000824●●●●●●
159. 14170955 c.56C>G p.T19S missense 0.00000824●●●●●●
160. 14170979 c.80A>G p.E27G missense 0.00000824●●●●●●
161. 14170982 c.83G>A p.R28Q missense 0.00000824●●●●●●
162. 14171017 c.118C>G p.L40V missense 0.00000824●●●●●●
163. 14174390 c.467T>G p.I156S missense 0.00000824●●●●●●
164. 14174407 c.484G>T p.D162Y missense 0.00000824●●●●●●
165. 14174423 c.500A>G p.H167R missense 0.00000824●●●●●●
166. 14175263 c.537G>A p.M179I missense 0.00000824●●●●●●
167. 14175270 c.544G>A p.A182T missense 0.00000824●●●●●●
168. 14175274 c.548C>G p.P183R missense 0.00000824●●●●●●
169. 14175286 c.560T>C p.I187T missense 0.00000824●●●●●●
170. 14175300 c.574C>T p.L192F missense 0.00000824●●●●●●
171. 14176288 c.602A>G p.D201G missense 0.00000824●●●●●●
172. 14176341 c.655A>G p.I219V missense 0.00000824●●●●●●
173. 14176348 c.662G>A p.R221H missense 0.00000824●●●●●●
174. 14176368 c.682A>G p.S228G missense 0.00000824●●●●●●
175. 14176372 c.686A>G p.E229G missense 0.00000824●●●●●●
176. 14176390 c.704A>C p.E235A missense 0.00000824●●●●●●
177. 14180692 c.895A>G p.R299G missense 0.00000824●●●●●●
178. 14180702 c.905G>A p.R302K missense 0.00000824●●●●●●
179. 14180743 c.946T>A p.W316R missense 0.00000824●●●●●●
180. 14183123 c.1031T>G p.V344G missense 0.00000824●●●●●●
181. 14183126 c.1034A>C p.N345T missense 0.00000824●●●●●●
182. 14183131 c.1039G>T p.G347C missense 0.00000824●●●●●●
183. 14183153 c.1061G>T p.C354F missense 0.00000824●●●●●●
184. 14183182 c.1090G>A p.V364M missense 0.00000824●●●●●●
185. 14183202 c.1110C>G p.F370L missense 0.00000824●●●●●●
186. 14183204 c.1112A>C p.Y371S missense 0.00000824●●●●●●
187. 14183209 c.1117C>A p.P373T 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.