SDHA variants in ExAC

SDHA gene summary
SDHA variants in

The table below lists the SDHA 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. 230980 c.771-11A>G splice site 0.88103875●●●●●●
2. 226160 c.619A>C p.R207R splice site 0.15683068●●●●●●
3. 254599 c.1886A>T p.Y629F missense 0.15153080●●●●●●
4. 256509 c.1969G>A p.V657I missense 0.12978850●●●●●●
5. 236678 c.1396G>A p.A466T missense 0.03823808●●●●●●
6. 223646 c.113A>T p.D38V missense 0.03529363●●●●●●
7. 256451 c.1911C>T p.V637V splice site 0.00467321●●●●●●
8. 218487 c.17G>A p.G6D missense 0.00213016●●●●●●
9. 226091 c.550G>A p.G184R missense 0.00158178●●●●●●
10. 224487 c.163T>C p.Y55H missense 0.00152454●●●●●●
11. 223679 c.146A>G p.D49G missense 0.00083199●●●●●●
12. 240563 c.1523C>T p.T508I missense 0.00075984●●●●●●
13. 223666 c.133G>A p.A45T missense 0.00055187●●●●●●
14. 231114 c.894A>G splice site 0.00039829●●●●●●
15. 223669 c.136A>G p.K46E missense 0.00038713●●●●●●
16. 251216 c.1661G>A p.R554Q missense 0.00031310●●●●●●
17. 225683 c.456+6G>T splice site 0.00028455●●●●●●
18. 223624 c.91C>T p.R31X nonsense 0.00016473●●●●●●
19. 235371 c.1177G>T p.V393L missense 0.00015671●●●●●●
20. 224547 c.223C>T p.R75X nonsense 0.00015650●●●●●●
21. 233651 c.955A>C p.I319L missense 0.00015649●●●●●●
22. 251540 c.1751C>T p.A584V missense 0.00014938●●●●●●
23. 236697 c.1415A>C p.E472A missense 0.00014834●●●●●●
24. 233687 c.991G>A p.A331T missense 0.00014002●●●●●●
25. 228292 c.622-8T>C splice site 0.00012438●●●●●●
26. 224479 c.155C>T p.S52F missense 0.00012366●●●●●●
27. 256519 c.1979C>G p.A660G missense 0.00011535●●●●●●
28. 223642 c.109G>A p.V37I missense 0.00011531●●●●●●
29. 231050 c.830C>T p.T277M missense 0.00010728●●●●●●
30. 228417 c.739A>G p.I247V missense 0.00010709●●●●●●
31. 236628 c.1346C>T p.A449V missense 0.00009890●●●●●●
32. 236619 c.1337T>C p.V446A missense 0.00009889●●●●●●
33. 256513 c.1973C>T p.P658L missense 0.00008238●●●●●●
34. 228382 c.704T>C p.I235T missense 0.00008237●●●●●●
35. 233765 c.1064+5G>A splice site 0.00007413●●●●●●
36. 233666 c.970G>A p.E324K missense 0.00007413●●●●●●
37. 218492 c.22T>C p.S8P missense 0.00006754●●●●●●
38. 235428 c.1234G>A p.G412S missense 0.00006609●●●●●●
39. 251212 c.1657G>A p.D553N missense 0.00006591●●●●●●
40. 233751 c.1055G>A p.R352Q missense 0.00006589●●●●●●
41. 251560 c.1771G>A p.A591T missense 0.00005812●●●●●●
42. 228307 c.629G>A p.R210Q missense 0.00005780●●●●●●
43. 225686 c.456+9C>T splice site 0.00005024●●●●●●
44. 240574 c.1534C>T p.R512X nonsense 0.00005022●●●●●●
45. 240572 c.1532T>C p.L511P missense 0.00005018●●●●●●
46. 226154 c.613T>C p.Y205H missense 0.00004951●●●●●●
47. 233764 c.1064+4C>T splice site 0.00004942●●●●●●
48. 254626 c.1908+5G>C splice site 0.00004545●●●●●●
49. 225669 c.448G>A p.V150M missense 0.00004177●●●●●●
50. 235255 c.1065-4C>A splice site 0.00004126●●●●●●
51. 226148 c.607A>G p.T203A missense 0.00004123●●●●●●
52. 251207 c.1652C>T p.T551M missense 0.00004119●●●●●●
53. 218484 c.14G>A p.R5Q missense 0.00003348●●●●●●
54. 218475 c.5C>T p.S2L missense 0.00003346●●●●●●
55. 218483 c.13C>G p.R5G missense 0.00003346●●●●●●
56. 228457 c.770+9C>G splice site 0.00003317●●●●●●
57. 226017 c.476C>T p.P159L missense 0.00003313●●●●●●
58. 236555 c.1273G>A p.V425M missense 0.00003302●●●●●●
59. 235404 c.1210C>T p.P404S missense 0.00003301●●●●●●
60. 231046 c.826G>A p.G276S missense 0.00003301●●●●●●
61. 224614 c.290G>C p.R97T missense 0.00003296●●●●●●
62. 256491 c.1951G>A p.E651K missense 0.00003295●●●●●●
63. 224529 c.205G>A p.A69T missense 0.00003295●●●●●●
64. 251135 c.1580G>A p.R527H missense 0.00003295●●●●●●
65. 256470 c.1930G>A p.V644M missense 0.00003295●●●●●●
66. 233682 c.986G>A p.R329Q missense 0.00003295●●●●●●
67. 218541 c.63+8C>T splice site 0.00003202●●●●●●
68. 218540 c.63+7C>A splice site 0.00003072●●●●●●
69. 240485 c.1445C>A p.P482H missense 0.00002692●●●●●●
70. 251586 c.1794+3G>C splice site 0.00002517●●●●●●
71. 251513 c.1724C>T p.A575V missense 0.00002504●●●●●●
72. 225663 c.442G>A p.A148T missense 0.00002504●●●●●●
73. 226170 c.621+8C>T splice site 0.00002493●●●●●●
74. 225641 c.420C>G p.H140Q missense 0.00002490●●●●●●
75. 251542 c.1753C>T p.R585W missense 0.00002485●●●●●●
76. 235284 c.1090G>A p.V364I missense 0.00002475●●●●●●
77. 235327 c.1133C>T p.T378M missense 0.00002475●●●●●●
78. 231020 c.800C>T p.T267M missense 0.00002475●●●●●●
79. 235365 c.1171G>A p.A391T missense 0.00002474●●●●●●
80. 224478 c.154T>A p.S52T missense 0.00002473●●●●●●
81. 251215 c.1660C>T p.R554W missense 0.00002472●●●●●●
82. 228344 c.666G>T p.L222F missense 0.00002472●●●●●●
83. 251152 c.1597C>G p.Q533E missense 0.00002471●●●●●●
84. 233697 c.1001C>T p.A334V missense 0.00002471●●●●●●
85. 233598 c.902A>G p.Y301C missense 0.00002471●●●●●●
86. 233690 c.994C>G p.P332A missense 0.00002471●●●●●●
87. 228402 c.724G>T p.G242W missense 0.00002471●●●●●●
88. 251134 c.1579C>T p.R527C missense 0.00002471●●●●●●
89. 236705 c.1423T>C p.C475R missense 0.00002471●●●●●●
90. 218496 c.26G>T p.R9L missense 0.00001703●●●●●●
91. 218495 c.25C>T p.R9W missense 0.00001700●●●●●●
92. 251586 c.1794+3G>A splice site 0.00001678●●●●●●
93. 218487 c.17G>T p.G6V missense 0.00001677●●●●●●
94. 251576 c.1787A>G p.D596G missense 0.00001669●●●●●●
95. 225645 c.424A>G p.M142V missense 0.00001662●●●●●●
96. 251528 c.1739A>G p.Y580C missense 0.00001662●●●●●●
97. 236538 c.1261-5C>A splice site 0.00001652●●●●●●
98. 226029 c.488C>T p.T163I missense 0.00001652●●●●●●
99. 225600 c.379G>A p.V127M missense 0.00001651●●●●●●
100. 218472 c.2T>A p.Met1? missense 0.00001651●●●●●●
101. 235309 c.1115C>G p.P372R missense 0.00001650●●●●●●
102. 235269 c.1075C>T p.P359S missense 0.00001650●●●●●●
103. 235371 c.1177G>A p.V393M missense 0.00001650●●●●●●
104. 235329 c.1135C>T p.R379C missense 0.00001650●●●●●●
105. 225594 c.373G>A p.D125N missense 0.00001650●●●●●●
106. 235272 c.1078G>A p.E360K missense 0.00001650●●●●●●
107. 236582 c.1300G>A p.G434S missense 0.00001650●●●●●●
108. 235330 c.1136G>A p.R379H missense 0.00001650●●●●●●
109. 231050 c.830C>A p.T277K missense 0.00001650●●●●●●
110. 235381 c.1187C>T p.T396M missense 0.00001650●●●●●●
111. 218471 c.1A>G p.M1V missense 0.00001650●●●●●●
112. 235345 c.1151C>G p.S384X nonsense 0.00001649●●●●●●
113. 226040 c.499A>C p.K167Q missense 0.00001649●●●●●●
114. 236721 c.1432+7G>C splice site 0.00001648●●●●●●
115. 226104 c.563G>A p.R188Q missense 0.00001648●●●●●●
116. 226094 c.553C>T p.Q185X nonsense 0.00001648●●●●●●
117. 223594 c.64-3C>T splice site 0.00001648●●●●●●
118. 228344 c.666delG p.Asp223IlefsTer3 frameshift 0.00001648●●●●●●
119. 256453 c.1913C>T p.T638I missense 0.00001648●●●●●●
120. 256455 c.1915C>G p.L639V missense 0.00001648●●●●●●
121. 236710 c.1428G>T p.R476S missense 0.00001648●●●●●●
122. 236712 c.1430C>T p.P477L missense 0.00001648●●●●●●
123. 251140 c.1585G>C p.G529R missense 0.00001647●●●●●●
124. 224548 c.224G>A p.R75Q missense 0.00001647●●●●●●
125. 233678 c.982G>A p.E328K missense 0.00001647●●●●●●
126. 223614 c.81A>C p.Q27H missense 0.00001647●●●●●●
127. 223625 c.92G>A p.R31Q missense 0.00001647●●●●●●
128. 233681 c.985C>G p.R329G missense 0.00001647●●●●●●
129. 233756 c.1060G>A p.G354R missense 0.00001647●●●●●●
130. 256476 c.1936G>A p.D646N missense 0.00001647●●●●●●
131. 240502 c.1462G>A p.A488T missense 0.00000854●●●●●●
132. 240511 c.1471G>T p.E491X nonsense 0.00000843●●●●●●
133. 240512 c.1472A>C p.E491A missense 0.00000842●●●●●●
134. 251589 c.1794+6C>T splice site 0.00000842●●●●●●
135. 240598 c.1551+7G>C splice site 0.00000840●●●●●●
136. 240591 c.1551G>A splice site 0.00000840●●●●●●
137. 240592 c.1551+1G>A essential splice site 0.00000840●●●●●●
138. 240594 c.1551+3A>G splice site 0.00000840●●●●●●
139. 240597 c.1551+6A>G splice site 0.00000839●●●●●●
140. 240575 c.1535G>A p.R512Q missense 0.00000838●●●●●●
141. 240523 c.1483A>G p.N495D missense 0.00000837●●●●●●
142. 240571 c.1531C>G p.L511V missense 0.00000836●●●●●●
143. 225675 c.454G>A p.E152K missense 0.00000836●●●●●●
144. 240532 c.1492A>C p.K498Q missense 0.00000835●●●●●●
145. 225666 c.445G>A p.A149T missense 0.00000835●●●●●●
146. 225657 c.436G>A p.A146T missense 0.00000835●●●●●●
147. 225672 c.451G>A p.V151I missense 0.00000835●●●●●●
148. 240542 c.1502T>A p.F501Y missense 0.00000835●●●●●●
149. 251575 c.1786G>T p.D596Y missense 0.00000834●●●●●●
150. 225654 c.433C>G p.Q145E missense 0.00000834●●●●●●
151. 225661 c.440C>A p.P147H missense 0.00000834●●●●●●
152. 251572 c.1783G>T p.E595X nonsense 0.00000833●●●●●●
153. 225649 c.428C>G p.T143R missense 0.00000832●●●●●●
154. 225994 c.457-4A>G splice site 0.00000832●●●●●●
155. 226002 c.461A>G p.E154G missense 0.00000831●●●●●●
156. 251530 c.1741G>A p.G581R missense 0.00000831●●●●●●
157. 226007 c.466T>C p.Y156H missense 0.00000831●●●●●●
158. 231114 c.894A>C splice site 0.00000830●●●●●●
159. 231121 c.895+6G>A splice site 0.00000830●●●●●●
160. 226008 c.467A>T p.Y156F missense 0.00000830●●●●●●
161. 251555 c.1766G>A p.R589Q missense 0.00000829●●●●●●
162. 235444 c.1250A>G p.Y417C missense 0.00000828●●●●●●
163. 226161 c.620G>A p.R207K missense 0.00000828●●●●●●
164. 251543 c.1754G>A p.R585Q missense 0.00000828●●●●●●
165. 225614 c.393_396delCTGG p.Leu133GlyfsTer9 frameshift 0.00000827●●●●●●
166. 228455 c.770+7A>G splice site 0.00000827●●●●●●
167. 231105 c.885C>G p.F295L missense 0.00000827●●●●●●
168. 235416 c.1222T>C p.Y408H missense 0.00000826●●●●●●
169. 231081 c.861C>G p.C287W missense 0.00000826●●●●●●
170. 235428 c.1234G>T p.G412C missense 0.00000826●●●●●●
171. 236555 c.1273G>T p.V425L missense 0.00000826●●●●●●
172. 228306 c.628C>T p.R210X nonsense 0.00000826●●●●●●
173. 235366 c.1172C>G p.A391G missense 0.00000825●●●●●●
174. 235344 c.1150T>G p.S384A missense 0.00000825●●●●●●
175. 231056 c.836T>C p.M279T missense 0.00000825●●●●●●
176. 235384 c.1190A>C p.K397T missense 0.00000825●●●●●●
177. 228312 c.634G>A p.D212N missense 0.00000825●●●●●●
178. 231038 c.818C>T p.T273I missense 0.00000825●●●●●●
179. 231002 c.782G>A p.R261H missense 0.00000825●●●●●●
180. 235351 c.1157C>T p.T386I missense 0.00000825●●●●●●
181. 231057 c.837G>A p.M279I missense 0.00000825●●●●●●
182. 235316 c.1122G>T p.E374D missense 0.00000825●●●●●●
183. 228313 c.635A>C p.D212A missense 0.00000825●●●●●●
184. 231032 c.812C>G p.T271S missense 0.00000825●●●●●●
185. 235377 c.1183G>A p.V395I missense 0.00000825●●●●●●
186. 235360 c.1166T>C p.I389T missense 0.00000825●●●●●●
187. 235339 c.1145G>A p.G382D missense 0.00000825●●●●●●
188. 231061 c.841A>G p.T281A missense 0.00000825●●●●●●
189. 235405 c.1211C>T p.P404L missense 0.00000825●●●●●●
190. 228316 c.638C>T p.T213I missense 0.00000825●●●●●●
191. 236588 c.1306T>C p.Y436H missense 0.00000825●●●●●●
192. 225598 c.377C>G p.T126S missense 0.00000825●●●●●●
193. 231001 c.781C>T p.R261C missense 0.00000825●●●●●●
194. 224640 c.312+4A>G splice site 0.00000825●●●●●●
195. 235293 c.1099C>G p.Q367E missense 0.00000825●●●●●●
196. 231034 c.814A>G p.S272G missense 0.00000825●●●●●●
197. 228448 c.770G>A p.G257E missense 0.00000825●●●●●●
198. 236622 c.1340A>G p.H447R missense 0.00000824●●●●●●
199. 251219 c.1663+1G>T essential splice site 0.00000824●●●●●●
200. 226074 c.533T>C p.L178P missense 0.00000824●●●●●●
201. 256482 c.1942A>C p.T648P missense 0.00000824●●●●●●
202. 223639 c.106A>G p.T36A missense 0.00000824●●●●●●
203. 251158 c.1603G>T p.G535C missense 0.00000824●●●●●●
204. 236706 c.1424G>A p.C475Y missense 0.00000824●●●●●●
205. 228406 c.728C>T p.S243F missense 0.00000824●●●●●●
206. 236645 c.1363A>C p.N455H missense 0.00000824●●●●●●
207. 226136 c.595T>A p.S199T missense 0.00000824●●●●●●
208. 233625 c.929G>A p.G310E missense 0.00000824●●●●●●
209. 225555 c.334G>A p.G112R missense 0.00000824●●●●●●
210. 233766 c.1064+6T>C splice site 0.00000824●●●●●●
211. 236639 c.1357G>A p.G453R missense 0.00000824●●●●●●
212. 228384 c.706G>A p.A236T missense 0.00000824●●●●●●
213. 228333 c.655T>C p.Y219H missense 0.00000824●●●●●●
214. 223601 c.68C>T p.P23L missense 0.00000824●●●●●●
215. 256491 c.1951G>C p.E651Q missense 0.00000824●●●●●●
216. 256449 c.1909G>T p.V637F missense 0.00000824●●●●●●
217. 233729 c.1033C>T p.R345W missense 0.00000824●●●●●●
218. 251171 c.1616T>G p.I539S missense 0.00000824●●●●●●
219. 224560 c.236G>A p.G79D missense 0.00000824●●●●●●
220. 236706 c.1424G>C p.C475S missense 0.00000824●●●●●●
221. 228432 c.754A>G p.T252A missense 0.00000824●●●●●●
222. 236714 c.1432G>C p.G478R missense 0.00000824●●●●●●
223. 256447 c.1909-2A>G essential splice site 0.00000824●●●●●●
224. 226053 c.512G>A p.R171H missense 0.00000824●●●●●●
225. 233678 c.982G>C p.E328Q missense 0.00000824●●●●●●
226. 226143 c.602T>C p.L201S missense 0.00000824●●●●●●
227. 223658 c.125G>A p.R42K missense 0.00000824●●●●●●
228. 236675 c.1393C>T p.R465W missense 0.00000824●●●●●●
229. 228334 c.656A>G p.Y219C missense 0.00000824●●●●●●
230. 224600 c.276G>C p.K92N missense 0.00000824●●●●●●
231. 223688 c.150+5G>T splice site 0.00000824●●●●●●
232. 226115 c.574G>A p.V192M missense 0.00000824●●●●●●
233. 233739 c.1043C>G p.T348S missense 0.00000824●●●●●●
234. 256510 c.1970T>C p.V657A missense 0.00000824●●●●●●
235. 251183 c.1628A>G p.Y543C missense 0.00000824●●●●●●
236. 233655 c.959A>G p.N320S missense 0.00000824●●●●●●
237. 224599 c.275A>C p.K92T missense 0.00000824●●●●●●
238. 236634 c.1352G>A p.R451H missense 0.00000824●●●●●●
239. 228438 c.760G>A p.V254I missense 0.00000824●●●●●●
240. 223682 c.149C>A p.S50Y missense 0.00000824●●●●●●
241. 226064 c.523G>A p.G175R missense 0.00000824●●●●●●
242. 256475 c.1935C>G p.I645M missense 0.00000824●●●●●●
243. 224545 c.221T>G p.L74W missense 0.00000824●●●●●●
244. 223636 c.103T>C p.F35L missense 0.00000824●●●●●●
245. 233738 c.1042A>T p.T348S missense 0.00000824●●●●●●
246. 224611 c.287C>T p.T96I missense 0.00000824●●●●●●
247. 223683 c.150C>T p.S50S splice site 0.00000824●●●●●●
248. 236717 c.1432+3A>G splice site 0.00000824●●●●●●
249. 228402 c.724G>A p.G242R missense 0.00000824●●●●●●
250. 226125 c.584G>A p.R195Q missense 0.00000824●●●●●●
251. 223595 c.64-2A>C essential splice site 0.00000824●●●●●●
252. 225544 c.323A>G p.N108S missense 0.00000824●●●●●●
253. 233658 c.962G>T p.S321I missense 0.00000824●●●●●●
254. 236714 c.1432G>T p.G478X nonsense 0.00000824●●●●●●
255. 228319 c.641G>A p.S214N missense 0.00000824●●●●●●
256. 233765 c.1064+5G>C splice site 0.00000824●●●●●●
257. 236625 c.1343G>T p.G448V 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.