TMEM43 variants in ExAC

TMEM43 gene summary
TMEM43 variants in DCM

The table below lists the TMEM43 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. 14172317 c.163-5delC splice site 0.00429078●●●●●●
5. 14170981 c.82C>T p.R28W missense 0.00289136●●●●●●
6. 14176384 c.698A>G p.Y233C missense 0.00204428●●●●●●
7. 14180750 c.953C>T p.A318V missense 0.00185353●●●●●●
8. 14183188 c.1096G>A p.A366T missense 0.00168106●●●●●●
9. 14177355 c.829A>T p.T277S missense 0.00096538●●●●●●
10. 14183203 c.1111T>C p.Y371H missense 0.00078303●●●●●●
11. 14170988 c.89G>A p.S30N missense 0.00053548●●●●●●
12. 14180693 c.896G>C p.R299T missense 0.00052730●●●●●●
13. 14174077 c.424G>A p.E142K missense 0.00048672●●●●●●
14. 14183153 c.1061G>C p.C354S missense 0.00046133●●●●●●
15. 14176398 c.705+7G>A splice site 0.00034631●●●●●●
16. 14183212 c.1120_1121delCT p.Leu374ValfsTer49 frameshift 0.00028851●●●●●●
17. 14172316 c.163-6T>A splice site 0.00026507●●●●●●
18. 14172445 c.286C>G p.R96G missense 0.00022568●●●●●●
19. 14172323 c.164G>A p.G55D missense 0.00022350●●●●●●
20. 14180744 c.947G>C p.W316S missense 0.00020594●●●●●●
21. 14176378 c.692C>T p.P231L missense 0.00018959●●●●●●
22. 14173105 c.323T>C p.V108A missense 0.00015898●●●●●●
23. 14176670 c.718C>T p.R240C missense 0.00014192●●●●●●
24. 14177328 c.802C>T p.R268W missense 0.00014048●●●●●●
25. 14176287 c.601G>A p.D201N missense 0.00012359●●●●●●
26. 14177391 c.865G>A p.G289R missense 0.00011561●●●●●●
27. 14183177 c.1085T>G p.L362R missense 0.00011535●●●●●●
28. 14183197 c.1105C>T p.L369F missense 0.00010714●●●●●●
29. 14174411 c.488G>A p.R163Q missense 0.00010709●●●●●●
30. 14172424 c.265G>A p.V89M missense 0.00009134●●●●●●
31. 14170930 c.31C>T p.R11W missense 0.00009065●●●●●●
32. 14174056 c.403G>A p.E135K missense 0.00008248●●●●●●
33. 14174066 c.413A>G p.Q138R missense 0.00008248●●●●●●
34. 14174407 c.484G>A p.D162N missense 0.00008238●●●●●●
35. 14173129 c.347G>A p.R116Q missense 0.00007555●●●●●●
36. 14177323 c.797G>A p.R266Q missense 0.00007440●●●●●●
37. 14177322 c.796C>T p.R266W missense 0.00006614●●●●●●
38. 14170990 c.91G>A p.E31K missense 0.00006590●●●●●●
39. 14172439 c.280G>A p.A94T missense 0.00005837●●●●●●
40. 14172430 c.271A>G p.I91V missense 0.00005820●●●●●●
41. 14172365 c.206C>T p.S69L missense 0.00005789●●●●●●
42. 14174102 c.442+7G>A splice site 0.00005784●●●●●●
43. 14177329 c.803G>T p.R268L missense 0.00005783●●●●●●
44. 14183242 c.1150C>G p.L384V missense 0.00005778●●●●●●
45. 14172446 c.287G>C p.R96P missense 0.00005022●●●●●●
46. 14172325 c.166C>T p.R56C missense 0.00004966●●●●●●
47. 14172328 c.169G>A p.A57T missense 0.00004964●●●●●●
48. 14176365 c.679C>G p.H227D missense 0.00004946●●●●●●
49. 14171020 c.121A>G p.M41V missense 0.00004943●●●●●●
50. 14173119 c.337G>A p.V113M missense 0.00004181●●●●●●
51. 14176700 c.748G>A p.G250S missense 0.00004179●●●●●●
52. 14172404 c.245C>T p.P82L missense 0.00004141●●●●●●
53. 14172326 c.167G>A p.R56H missense 0.00004137●●●●●●
54. 14177379 c.853C>A p.L285I missense 0.00004126●●●●●●
55. 14176345 c.659G>A p.R220H missense 0.00004121●●●●●●
56. 14176347 c.661C>T p.R221C missense 0.00004121●●●●●●
57. 14175317 c.583+8T>C splice site 0.00004118●●●●●●
58. 14173143 c.361A>G p.M121V missense 0.00003378●●●●●●
59. 14173092 c.310C>G p.P104A missense 0.00003363●●●●●●
60. 14172446 c.287G>A p.R96Q missense 0.00003348●●●●●●
61. 14176694 c.742C>A p.L248M missense 0.00003339●●●●●●
62. 14176671 c.719G>A p.R240H missense 0.00003338●●●●●●
63. 14172428 c.269A>G p.H90R missense 0.00003324●●●●●●
64. 14183251 c.1159A>G p.I387V missense 0.00003305●●●●●●
65. 14174081 c.428C>T p.T143M missense 0.00003302●●●●●●
66. 14174070 c.417_419delGAA p.Lys141del inframe 0.00003300●●●●●●
67. 14176344 c.658C>T p.R220C missense 0.00003297●●●●●●
68. 14170997 c.98C>T p.S33L missense 0.00003295●●●●●●
69. 14183113 c.1021C>T p.R341X nonsense 0.00003295●●●●●●
70. 14183151 c.1059C>G p.F353L missense 0.00003295●●●●●●
71. 14180711 c.914C>A p.S305Y missense 0.00003295●●●●●●
72. 14173126 c.344T>C p.L115P missense 0.00002511●●●●●●
73. 14176695 c.743T>C p.L248P missense 0.00002506●●●●●●
74. 14176670 c.718C>G p.R240G missense 0.00002504●●●●●●
75. 14172403 c.244C>G p.P82A missense 0.00002484●●●●●●
76. 14174093 c.440A>T p.Y147F missense 0.00002477●●●●●●
77. 14176350 c.664G>A p.G222R missense 0.00002473●●●●●●
78. 14183086 c.1001-7T>C splice site 0.00002473●●●●●●
79. 14183204 c.1112A>G p.Y371C missense 0.00002473●●●●●●
80. 14176340 c.654C>G p.I218M missense 0.00002473●●●●●●
81. 14176332 c.646G>T p.V216L missense 0.00002472●●●●●●
82. 14176263 c.584-7C>T splice site 0.00002472●●●●●●
83. 14174410 c.487C>T p.R163X nonsense 0.00002471●●●●●●
84. 14183114 c.1022G>A p.R341Q missense 0.00002471●●●●●●
85. 14175304 c.578C>G p.S193W missense 0.00002471●●●●●●
86. 14183134 c.1042C>G p.L348V missense 0.00002471●●●●●●
87. 14176730 c.778G>A p.V260M missense 0.00001710●●●●●●
88. 14176724 c.772G>C p.A258P missense 0.00001697●●●●●●
89. 14173137 c.355G>A p.V119M missense 0.00001682●●●●●●
90. 14173134 c.352C>T p.H118Y missense 0.00001679●●●●●●
91. 14173128 c.346C>T p.R116W missense 0.00001676●●●●●●
92. 14176703 c.751G>A p.D251N missense 0.00001674●●●●●●
93. 14183270 c.1178G>A p.R393Q missense 0.00001668●●●●●●
94. 14183269 c.1177C>T p.R393W missense 0.00001668●●●●●●
95. 14172440 c.281C>T p.A94V missense 0.00001668●●●●●●
96. 14172434 c.275T>C p.I92T missense 0.00001664●●●●●●
97. 14172367 c.208C>T p.L70F missense 0.00001654●●●●●●
98. 14174059 c.406G>A p.D136N missense 0.00001650●●●●●●
99. 14177371 c.845C>A p.T282N missense 0.00001650●●●●●●
100. 14174054 c.401C>A p.T134N missense 0.00001649●●●●●●
101. 14176386 c.700C>T p.P234S missense 0.00001649●●●●●●
102. 14183207 c.1115G>A p.R372Q missense 0.00001649●●●●●●
103. 14176397 c.705+6C>T splice site 0.00001649●●●●●●
104. 14180695 c.898G>T p.E300X nonsense 0.00001648●●●●●●
105. 14176331 c.645T>G p.H215Q missense 0.00001648●●●●●●
106. 14176332 c.646G>A p.V216M missense 0.00001648●●●●●●
107. 14183126 c.1034A>G p.N345S missense 0.00001648●●●●●●
108. 14170930 c.31C>G p.R11G missense 0.00001648●●●●●●
109. 14174420 c.497G>C p.G166A missense 0.00001648●●●●●●
110. 14180691 c.894T>G p.H298Q missense 0.00001648●●●●●●
111. 14183118 c.1026C>A p.D342E missense 0.00001648●●●●●●
112. 14170939 c.40C>T p.H14Y missense 0.00001648●●●●●●
113. 14180799 c.1000+2T>C essential splice site 0.00001647●●●●●●
114. 14180753 c.956T>C p.M319T missense 0.00001647●●●●●●
115. 14175317 c.583+8T>G splice site 0.00001647●●●●●●
116. 14180774 c.977T>C p.M326T missense 0.00001647●●●●●●
117. 14180780 c.983G>A p.R328Q missense 0.00001647●●●●●●
118. 14180779 c.982C>T p.R328W missense 0.00001647●●●●●●
119. 14166695 c.2T>A p.Met1? missense 0.00001088●●●●●●
120. 14166694 c.1A>G p.Met1? missense 0.00001088●●●●●●
121. 14173182 c.392+8G>T splice site 0.00000900●●●●●●
122. 14173170 c.388T>C p.S130P missense 0.00000871●●●●●●
123. 14173081 c.299T>A p.L100H missense 0.00000852●●●●●●
124. 14173153 c.371delG p.Val125Ter frameshift 0.00000849●●●●●●
125. 14172457 c.297+1G>A essential splice site 0.00000840●●●●●●
126. 14172455 c.296A>G p.K99R missense 0.00000840●●●●●●
127. 14176653 c.706-5C>G splice site 0.00000840●●●●●●
128. 14176710 c.758C>G p.P253R missense 0.00000840●●●●●●
129. 14176654 c.706-4C>G splice site 0.00000839●●●●●●
130. 14173131 c.349_350insG p.His118AlafsTer11 frameshift 0.00000839●●●●●●
131. 14176657 c.706-1G>C essential splice site 0.00000838●●●●●●
132. 14176657 c.706-1G>T essential splice site 0.00000838●●●●●●
133. 14173099 c.317A>G p.Y106C missense 0.00000838●●●●●●
134. 14173114 c.332C>T p.P111L missense 0.00000836●●●●●●
135. 14183272 c.1180G>A p.V394M missense 0.00000835●●●●●●
136. 14176671 c.719_720insT p.Val241CysfsTer12 frameshift 0.00000835●●●●●●
137. 14176671 c.719G>C p.R240P missense 0.00000835●●●●●●
138. 14176673 c.721G>A p.V241I missense 0.00000834●●●●●●
139. 14176686 c.734A>G p.Y245C missense 0.00000834●●●●●●
140. 14176677 c.725C>T p.S242F missense 0.00000834●●●●●●
141. 14176683 c.731C>T p.S244F missense 0.00000834●●●●●●
142. 14172432 c.273C>G p.I91M missense 0.00000832●●●●●●
143. 14183264 c.1172G>A p.R391Q missense 0.00000831●●●●●●
144. 14172424 c.265G>C p.V89L missense 0.00000830●●●●●●
145. 14172315 c.163-7C>T splice site 0.00000829●●●●●●
146. 14172412 c.253G>A p.E85K missense 0.00000829●●●●●●
147. 14172416 c.257G>A p.G86E missense 0.00000829●●●●●●
148. 14177302 c.781-5A>T splice site 0.00000829●●●●●●
149. 14177304 c.781-3C>A splice site 0.00000829●●●●●●
150. 14172410 c.251A>G p.N84S missense 0.00000829●●●●●●
151. 14172320 c.163-2A>G essential splice site 0.00000828●●●●●●
152. 14172359 c.200G>C p.G67A missense 0.00000827●●●●●●
153. 14172387 c.228C>G p.S76R missense 0.00000827●●●●●●
154. 14172373 c.214G>A p.V72M missense 0.00000827●●●●●●
155. 14172328 c.169G>T p.A57S missense 0.00000827●●●●●●
156. 14170909 c.13-3C>T splice site 0.00000827●●●●●●
157. 14172350 c.191T>G p.L64W missense 0.00000827●●●●●●
158. 14177388 c.862C>T p.H288Y missense 0.00000826●●●●●●
159. 14170912 c.13T>C p.Y5H missense 0.00000826●●●●●●
160. 14177337 c.811C>T p.Gln271Ter nonsense 0.00000826●●●●●●
161. 14174086 c.433T>C p.Y145H missense 0.00000826●●●●●●
162. 14177329 c.803G>A p.R268Q missense 0.00000826●●●●●●
163. 14183242 c.1150C>T p.L384F missense 0.00000825●●●●●●
164. 14170916 c.17C>G p.S6C missense 0.00000825●●●●●●
165. 14183224 c.1132C>G p.L378V missense 0.00000825●●●●●●
166. 14174063 c.410G>C p.G137A missense 0.00000825●●●●●●
167. 14177370 c.844A>C p.T282P missense 0.00000825●●●●●●
168. 14176396 c.705+5G>T splice site 0.00000825●●●●●●
169. 14174038 c.393-8C>T splice site 0.00000825●●●●●●
170. 14183227 c.1135A>G p.I379V missense 0.00000825●●●●●●
171. 14183233 c.1141G>A p.G381S missense 0.00000825●●●●●●
172. 14183236 c.1144C>G p.L382V missense 0.00000825●●●●●●
173. 14171061 c.162G>C p.E54D missense 0.00000825●●●●●●
174. 14170913 c.14A>G p.Y5C missense 0.00000825●●●●●●
175. 14177379 c.853C>T p.L285F missense 0.00000825●●●●●●
176. 14174443 c.512+8C>A splice site 0.00000824●●●●●●
177. 14180743 c.946T>A p.W316R missense 0.00000824●●●●●●
178. 14180770 c.973C>T p.L325F missense 0.00000824●●●●●●
179. 14183182 c.1090G>A p.V364M missense 0.00000824●●●●●●
180. 14170946 c.47A>G p.K16R missense 0.00000824●●●●●●
181. 14176332 c.646G>C p.V216L missense 0.00000824●●●●●●
182. 14176267 c.584-3C>T splice site 0.00000824●●●●●●
183. 14180702 c.905G>C p.R302T missense 0.00000824●●●●●●
184. 14180803 c.1000+6T>C splice site 0.00000824●●●●●●
185. 14175300 c.574C>T p.L192F missense 0.00000824●●●●●●
186. 14175270 c.544G>A p.A182T missense 0.00000824●●●●●●
187. 14180702 c.905G>A p.R302K missense 0.00000824●●●●●●
188. 14174404 c.481delT p.Phe161SerfsTer46 frameshift 0.00000824●●●●●●
189. 14180802 c.1000+5G>T splice site 0.00000824●●●●●●
190. 14183105 c.1013C>T p.P338L missense 0.00000824●●●●●●
191. 14170920 c.21T>G p.S7R missense 0.00000824●●●●●●
192. 14176390 c.704A>C p.E235A missense 0.00000824●●●●●●
193. 14183206 c.1114C>T p.R372X nonsense 0.00000824●●●●●●
194. 14183202 c.1110C>G p.F370L missense 0.00000824●●●●●●
195. 14170955 c.56C>G p.T19S missense 0.00000824●●●●●●
196. 14170936 c.37G>A p.E13K missense 0.00000824●●●●●●
197. 14183102 c.1010T>A p.F337Y missense 0.00000824●●●●●●
198. 14176345 c.659G>T p.R220L missense 0.00000824●●●●●●
199. 14171035 c.136T>C p.S46P missense 0.00000824●●●●●●
200. 14170931 c.32G>A p.R11Q missense 0.00000824●●●●●●
201. 14176368 c.682A>G p.S228G missense 0.00000824●●●●●●
202. 14171017 c.118C>G p.L40V missense 0.00000824●●●●●●
203. 14175274 c.548C>G p.P183R missense 0.00000824●●●●●●
204. 14183153 c.1061G>T p.C354F missense 0.00000824●●●●●●
205. 14174390 c.467T>G p.I156S missense 0.00000824●●●●●●
206. 14175304 c.578C>A p.S193X nonsense 0.00000824●●●●●●
207. 14170948 c.49G>A p.V17I missense 0.00000824●●●●●●
208. 14171037 c.138_140delCTT p.Phe47del inframe 0.00000824●●●●●●
209. 14170979 c.80A>G p.E27G missense 0.00000824●●●●●●
210. 14183123 c.1031T>G p.V344G missense 0.00000824●●●●●●
211. 14174423 c.500A>G p.H167R missense 0.00000824●●●●●●
212. 14183131 c.1039G>T p.G347C missense 0.00000824●●●●●●
213. 14174438 c.512+3G>T splice site 0.00000824●●●●●●
214. 14180692 c.895A>G p.R299G missense 0.00000824●●●●●●
215. 14174436 c.512+1G>T essential splice site 0.00000824●●●●●●
216. 14175244 c.518T>C p.M173T missense 0.00000824●●●●●●
217. 14176372 c.686A>G p.E229G missense 0.00000824●●●●●●
218. 14175286 c.560T>C p.I187T missense 0.00000824●●●●●●
219. 14176288 c.602A>G p.D201G missense 0.00000824●●●●●●
220. 14174407 c.484G>T p.D162Y missense 0.00000824●●●●●●
221. 14175241 c.515C>T p.A172V missense 0.00000824●●●●●●
222. 14180678 c.883-2A>C essential splice site 0.00000824●●●●●●
223. 14183120 c.1028T>C p.L343P missense 0.00000824●●●●●●
224. 14183209 c.1117C>A p.P373T missense 0.00000824●●●●●●
225. 14176348 c.662G>A p.R221H missense 0.00000824●●●●●●
226. 14183204 c.1112A>C p.Y371S missense 0.00000824●●●●●●
227. 14176341 c.655A>G p.I219V missense 0.00000824●●●●●●
228. 14170982 c.83G>A p.R28Q missense 0.00000824●●●●●●
229. 14180796 c.999G>A splice site 0.00000824●●●●●●
230. 14183126 c.1034A>C p.N345T missense 0.00000824●●●●●●
231. 14175263 c.537G>A p.M179I 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.