TMEM43 non-truncating variants in ExAC


The table below lists the TMEM43 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 frequencyPopulations*
1. 14172424 c.265G>A p.V89M missense 0.00009134
2. 14170930 c.31C>T p.R11W missense 0.00009065
3. 14174056 c.403G>A p.E135K missense 0.00008248
4. 14174066 c.413A>G p.Q138R missense 0.00008248
5. 14174407 c.484G>A p.D162N missense 0.00008238
6. 14173129 c.347G>A p.R116Q missense 0.00007555
7. 14177323 c.797G>A p.R266Q missense 0.00007440
8. 14177322 c.796C>T p.R266W missense 0.00006614
9. 14170990 c.91G>A p.E31K missense 0.00006590
10. 14172439 c.280G>A p.A94T missense 0.00005837
11. 14172430 c.271A>G p.I91V missense 0.00005820
12. 14172365 c.206C>T p.S69L missense 0.00005789
13. 14177329 c.803G>T p.R268L missense 0.00005783
14. 14183242 c.1150C>G p.L384V missense 0.00005778
15. 14172446 c.287G>C p.R96P missense 0.00005022
16. 14172325 c.166C>T p.R56C missense 0.00004966
17. 14172328 c.169G>A p.A57T missense 0.00004964
18. 14176365 c.679C>G p.H227D missense 0.00004946
19. 14171020 c.121A>G p.M41V missense 0.00004943
20. 14173119 c.337G>A p.V113M missense 0.00004181
21. 14176700 c.748G>A p.G250S missense 0.00004179
22. 14172404 c.245C>T p.P82L missense 0.00004141
23. 14172326 c.167G>A p.R56H missense 0.00004137
24. 14177379 c.853C>A p.L285I missense 0.00004126
25. 14176345 c.659G>A p.R220H missense 0.00004121
26. 14176347 c.661C>T p.R221C missense 0.00004121
27. 14173143 c.361A>G p.M121V missense 0.00003378
28. 14173092 c.310C>G p.P104A missense 0.00003363
29. 14172446 c.287G>A p.R96Q missense 0.00003348
30. 14176694 c.742C>A p.L248M missense 0.00003339
31. 14176671 c.719G>A p.R240H missense 0.00003338
32. 14172428 c.269A>G p.H90R missense 0.00003324
33. 14183251 c.1159A>G p.I387V missense 0.00003305
34. 14174081 c.428C>T p.T143M missense 0.00003302
35. 14174070 c.417_419delGAA p.Lys141del inframe 0.00003300
36. 14176344 c.658C>T p.R220C missense 0.00003297
37. 14180711 c.914C>A p.S305Y missense 0.00003295
38. 14170997 c.98C>T p.S33L missense 0.00003295
39. 14183151 c.1059C>G p.F353L missense 0.00003295
40. 14173126 c.344T>C p.L115P missense 0.00002511
41. 14176695 c.743T>C p.L248P missense 0.00002506
42. 14176670 c.718C>G p.R240G missense 0.00002504
43. 14172403 c.244C>G p.P82A missense 0.00002484
44. 14174093 c.440A>T p.Y147F missense 0.00002477
45. 14176340 c.654C>G p.I218M missense 0.00002473
46. 14176350 c.664G>A p.G222R missense 0.00002473
47. 14183204 c.1112A>G p.Y371C missense 0.00002473
48. 14176332 c.646G>T p.V216L missense 0.00002472
49. 14183134 c.1042C>G p.L348V missense 0.00002471
50. 14183114 c.1022G>A p.R341Q missense 0.00002471
51. 14175304 c.578C>G p.S193W missense 0.00002471
52. 14176730 c.778G>A p.V260M missense 0.00001710
53. 14176724 c.772G>C p.A258P missense 0.00001697
54. 14173137 c.355G>A p.V119M missense 0.00001682
55. 14173134 c.352C>T p.H118Y missense 0.00001679
56. 14173128 c.346C>T p.R116W missense 0.00001676
57. 14176703 c.751G>A p.D251N missense 0.00001674
58. 14183269 c.1177C>T p.R393W missense 0.00001668
59. 14183270 c.1178G>A p.R393Q missense 0.00001668
60. 14172440 c.281C>T p.A94V missense 0.00001668
61. 14172434 c.275T>C p.I92T missense 0.00001664
62. 14172367 c.208C>T p.L70F missense 0.00001654
63. 14174059 c.406G>A p.D136N missense 0.00001650
64. 14177371 c.845C>A p.T282N missense 0.00001650
65. 14183207 c.1115G>A p.R372Q missense 0.00001649
66. 14176386 c.700C>T p.P234S missense 0.00001649
67. 14174054 c.401C>A p.T134N missense 0.00001649
68. 14170930 c.31C>G p.R11G missense 0.00001648
69. 14176331 c.645T>G p.H215Q missense 0.00001648
70. 14183126 c.1034A>G p.N345S missense 0.00001648
71. 14176332 c.646G>A p.V216M missense 0.00001648
72. 14170939 c.40C>T p.H14Y missense 0.00001648
73. 14174420 c.497G>C p.G166A missense 0.00001648
74. 14183118 c.1026C>A p.D342E missense 0.00001648
75. 14180691 c.894T>G p.H298Q missense 0.00001648
76. 14180774 c.977T>C p.M326T missense 0.00001647
77. 14180780 c.983G>A p.R328Q missense 0.00001647
78. 14180779 c.982C>T p.R328W missense 0.00001647
79. 14180753 c.956T>C p.M319T missense 0.00001647
80. 14166694 c.1A>G p.Met1? missense 0.00001088
81. 14166695 c.2T>A p.Met1? missense 0.00001088
82. 14173170 c.388T>C p.S130P missense 0.00000871
83. 14173081 c.299T>A p.L100H missense 0.00000852
84. 14172455 c.296A>G p.K99R missense 0.00000840
85. 14176710 c.758C>G p.P253R missense 0.00000840
86. 14173099 c.317A>G p.Y106C missense 0.00000838
87. 14173114 c.332C>T p.P111L missense 0.00000836
88. 14176671 c.719G>C p.R240P missense 0.00000835
89. 14183272 c.1180G>A p.V394M missense 0.00000835
90. 14176683 c.731C>T p.S244F missense 0.00000834
91. 14176673 c.721G>A p.V241I missense 0.00000834
92. 14176686 c.734A>G p.Y245C missense 0.00000834
93. 14176677 c.725C>T p.S242F missense 0.00000834
94. 14172432 c.273C>G p.I91M missense 0.00000832
95. 14183264 c.1172G>A p.R391Q missense 0.00000831
96. 14172424 c.265G>C p.V89L missense 0.00000830
97. 14172410 c.251A>G p.N84S missense 0.00000829
98. 14172416 c.257G>A p.G86E missense 0.00000829
99. 14172412 c.253G>A p.E85K missense 0.00000829
100. 14172359 c.200G>C p.G67A missense 0.00000827
101. 14172373 c.214G>A p.V72M missense 0.00000827
102. 14172328 c.169G>T p.A57S missense 0.00000827
103. 14172387 c.228C>G p.S76R missense 0.00000827
104. 14172350 c.191T>G p.L64W missense 0.00000827
105. 14177329 c.803G>A p.R268Q missense 0.00000826
106. 14177388 c.862C>T p.H288Y missense 0.00000826
107. 14170912 c.13T>C p.Y5H missense 0.00000826
108. 14174086 c.433T>C p.Y145H missense 0.00000826
109. 14177379 c.853C>T p.L285F missense 0.00000825
110. 14174063 c.410G>C p.G137A missense 0.00000825
111. 14183227 c.1135A>G p.I379V missense 0.00000825
112. 14170916 c.17C>G p.S6C missense 0.00000825
113. 14183233 c.1141G>A p.G381S missense 0.00000825
114. 14177370 c.844A>C p.T282P missense 0.00000825
115. 14183236 c.1144C>G p.L382V missense 0.00000825
116. 14183242 c.1150C>T p.L384F missense 0.00000825
117. 14171061 c.162G>C p.E54D missense 0.00000825
118. 14183224 c.1132C>G p.L378V missense 0.00000825
119. 14170913 c.14A>G p.Y5C missense 0.00000825
120. 14170931 c.32G>A p.R11Q missense 0.00000824
121. 14183131 c.1039G>T p.G347C missense 0.00000824
122. 14183123 c.1031T>G p.V344G missense 0.00000824
123. 14170982 c.83G>A p.R28Q missense 0.00000824
124. 14170946 c.47A>G p.K16R missense 0.00000824
125. 14183182 c.1090G>A p.V364M missense 0.00000824
126. 14175274 c.548C>G p.P183R missense 0.00000824
127. 14174423 c.500A>G p.H167R missense 0.00000824
128. 14180702 c.905G>C p.R302T missense 0.00000824
129. 14183120 c.1028T>C p.L343P missense 0.00000824
130. 14176372 c.686A>G p.E229G missense 0.00000824
131. 14176288 c.602A>G p.D201G missense 0.00000824
132. 14183126 c.1034A>C p.N345T missense 0.00000824
133. 14174390 c.467T>G p.I156S missense 0.00000824
134. 14175241 c.515C>T p.A172V missense 0.00000824
135. 14175244 c.518T>C p.M173T missense 0.00000824
136. 14176348 c.662G>A p.R221H missense 0.00000824
137. 14170955 c.56C>G p.T19S missense 0.00000824
138. 14176332 c.646G>C p.V216L missense 0.00000824
139. 14171037 c.138_140delCTT p.Phe47del inframe 0.00000824
140. 14183102 c.1010T>A p.F337Y missense 0.00000824
141. 14183202 c.1110C>G p.F370L missense 0.00000824
142. 14175286 c.560T>C p.I187T missense 0.00000824
143. 14176390 c.704A>C p.E235A missense 0.00000824
144. 14176341 c.655A>G p.I219V missense 0.00000824
145. 14170936 c.37G>A p.E13K missense 0.00000824
146. 14175263 c.537G>A p.M179I missense 0.00000824
147. 14174407 c.484G>T p.D162Y missense 0.00000824
148. 14180692 c.895A>G p.R299G missense 0.00000824
149. 14180770 c.973C>T p.L325F missense 0.00000824
150. 14180743 c.946T>A p.W316R missense 0.00000824
151. 14170920 c.21T>G p.S7R missense 0.00000824
152. 14171017 c.118C>G p.L40V missense 0.00000824
153. 14175300 c.574C>T p.L192F missense 0.00000824
154. 14183209 c.1117C>A p.P373T missense 0.00000824
155. 14170979 c.80A>G p.E27G missense 0.00000824
156. 14183153 c.1061G>T p.C354F missense 0.00000824
157. 14175270 c.544G>A p.A182T missense 0.00000824
158. 14176345 c.659G>T p.R220L missense 0.00000824
159. 14180702 c.905G>A p.R302K missense 0.00000824
160. 14170948 c.49G>A p.V17I missense 0.00000824
161. 14176368 c.682A>G p.S228G missense 0.00000824
162. 14183204 c.1112A>C p.Y371S missense 0.00000824
163. 14171035 c.136T>C p.S46P missense 0.00000824
164. 14183105 c.1013C>T p.P338L 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.