KCNQ2 variants in ExAC

KCNQ2 gene summary
KCNQ2 variants in

The table below lists the KCNQ2 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. 62038277 c.2339A>C p.N780T missense 0.63723962●●●●●●
2. 62038551 c.2065A>C p.I689L missense 0.00255041●●●●●●
3. 62045527 c.1545G>C p.E515D missense 0.00249916●●●●●●
4. 62038352 c.2264A>G p.Y755C missense 0.00146574●●●●●●
5. 62046433 c.1348G>A p.V450M missense 0.00126511●●●●●●
6. 62103689 c.128C>T p.A43V missense 0.00083935●●●●●●
7. 62038350 c.2266G>A p.G756S missense 0.00054466●●●●●●
8. 62051020 c.1253G>T p.G418V missense 0.00037333●●●●●●
9. 62038412 c.2204A>C p.D735A missense 0.00035402●●●●●●
10. 62038003 c.2613G>T p.R871S missense 0.00030276●●●●●●
11. 62038056 c.2560C>T p.R854C missense 0.00030263●●●●●●
12. 62038339 c.2277C>A p.N759K missense 0.00022222●●●●●●
13. 62038529 c.2087C>T p.T696M missense 0.00020208●●●●●●
14. 62055565 c.1218-6T>C splice site 0.00018848●●●●●●
15. 62050965 c.1301+7C>T splice site 0.00018670●●●●●●
16. 62038478 c.2138C>T p.P713L missense 0.00017442●●●●●●
17. 62039895 c.1764-6C>T splice site 0.00016195●●●●●●
18. 62038286 c.2330C>G p.P777R missense 0.00013109●●●●●●
19. 62038497 c.2119G>A p.A707T missense 0.00012624●●●●●●
20. 62039821 c.1832C>T p.A611V missense 0.00012438●●●●●●
21. 62038337 c.2279G>A p.R760H missense 0.00012080●●●●●●
22. 62038422 c.2194C>A p.P732T missense 0.00011434●●●●●●
23. 62038398 c.2218G>A p.V740M missense 0.00011369●●●●●●
24. 62038437 c.2179G>A p.G727S missense 0.00010089●●●●●●
25. 62038442 c.2174G>T p.R725L missense 0.00009777●●●●●●
26. 62038317 c.2299C>T p.R767W missense 0.00009777●●●●●●
27. 62038442 c.2174G>A p.R725H missense 0.00009777●●●●●●
28. 62076009 c.690+3G>A splice site 0.00009517●●●●●●
29. 62055545 c.1232C>T p.P411L missense 0.00009304●●●●●●
30. 62038301 c.2315C>T p.P772L missense 0.00008011●●●●●●
31. 62103627 c.190G>T p.A64S missense 0.00007811●●●●●●
32. 62038272 c.2344C>T p.R782W missense 0.00007759●●●●●●
33. 62045553 c.1526-7C>G splice site 0.00007665●●●●●●
34. 62103762 c.55_57delAAG p.Lys19del inframe 0.00007641●●●●●●
35. 62103771 c.46G>T p.G16W missense 0.00007560●●●●●●
36. 62103624 c.193G>A p.G65R missense 0.00007559●●●●●●
37. 62038502 c.2114C>T p.P705L missense 0.00007081●●●●●●
38. 62038295 c.2321G>A p.C774Y missense 0.00007079●●●●●●
39. 62038356 c.2260G>A p.A754T missense 0.00006557●●●●●●
40. 62051003 c.1270C>T p.P424S missense 0.00006409●●●●●●
41. 62038508 c.2108C>T p.A703V missense 0.00005809●●●●●●
42. 62050982 c.1291G>A p.G431R missense 0.00005557●●●●●●
43. 62038239 c.2377G>A p.V793M missense 0.00005475●●●●●●
44. 62039852 c.1801G>A p.D601N missense 0.00005163●●●●●●
45. 62050964 c.1301+8G>A splice site 0.00005034●●●●●●
46. 62045532 c.1540G>A p.G514R missense 0.00005025●●●●●●
47. 62038514 c.2102_2104delTCT p.Phe701del inframe 0.00004829●●●●●●
48. 62050979 c.1294C>T p.R432C missense 0.00004527●●●●●●
49. 62038287 c.2329C>T p.P777S missense 0.00004480●●●●●●
50. 62038304 c.2312C>T p.T771I missense 0.00004476●●●●●●
51. 62038628 c.1988A>G p.E663G missense 0.00004461●●●●●●
52. 62038676 c.1940G>A p.R647Q missense 0.00004388●●●●●●
53. 62059717 c.1217+3C>A splice site 0.00004287●●●●●●
54. 62046485 c.1302-6G>A splice site 0.00004265●●●●●●
55. 62044942 c.1632-8C>T splice site 0.00004208●●●●●●
56. 62071072 c.817-11C>T splice site 0.00004163●●●●●●
57. 62038560 c.2056A>G p.I686V missense 0.00004093●●●●●●
58. 62059727 c.1210G>A p.A404T missense 0.00003997●●●●●●
59. 62038566 c.2050G>A p.G684S missense 0.00003973●●●●●●
60. 62038044 c.2572G>A p.G858S missense 0.00003877●●●●●●
61. 62050967 c.1301+5C>T splice site 0.00003667●●●●●●
62. 62046460 c.1321G>A p.D441N missense 0.00003438●●●●●●
63. 62038503 c.2113C>T p.P705S missense 0.00003379●●●●●●
64. 62044792 c.1763+11C>T splice site 0.00003369●●●●●●
65. 62046316 c.1465C>T p.R489C missense 0.00003339●●●●●●
66. 62046292 c.1489C>T p.R497C missense 0.00003330●●●●●●
67. 62078144 c.343A>C p.I115L missense 0.00003324●●●●●●
68. 62038316 c.2300G>A p.R767Q missense 0.00003205●●●●●●
69. 62039761 c.1887+5G>A splice site 0.00002906●●●●●●
70. 62038580 c.2036A>G p.H679R missense 0.00002817●●●●●●
71. 62038587 c.2029C>T p.R677W missense 0.00002767●●●●●●
72. 62038625 c.1991C>T p.P664L missense 0.00002689●●●●●●
73. 62059778 c.1159C>T p.P387S missense 0.00002685●●●●●●
74. 62038152 c.2464G>A p.A822T missense 0.00002658●●●●●●
75. 62038718 c.1898T>C p.M633T missense 0.00002643●●●●●●
76. 62046429 c.1352C>T p.A451V missense 0.00002566●●●●●●
77. 62038046 c.2570C>T p.T857I missense 0.00002563●●●●●●
78. 62045554 c.1526-8C>T splice site 0.00002563●●●●●●
79. 62038068 c.2548G>A p.G850R missense 0.00002516●●●●●●
80. 62046277 c.1504G>A p.A502T missense 0.00002496●●●●●●
81. 62078197 c.297-7C>T splice site 0.00002495●●●●●●
82. 62069969 c.1023+9A>G splice site 0.00002491●●●●●●
83. 62076611 c.494G>A p.R165Q missense 0.00002491●●●●●●
84. 62038070 c.2546G>T p.C849F missense 0.00002472●●●●●●
85. 62050966 c.1301+6G>A splice site 0.00002469●●●●●●
86. 62038511 c.2105C>T p.S702L missense 0.00002414●●●●●●
87. 62038548 c.2068G>A p.V690M missense 0.00002292●●●●●●
88. 62076164 c.538A>G p.I180V missense 0.00002247●●●●●●
89. 62039830 c.1823C>T p.P608L missense 0.00002093●●●●●●
90. 62039839 c.1814C>T p.T605I missense 0.00002081●●●●●●
91. 62039822 c.1831G>A p.A611T missense 0.00002063●●●●●●
92. 62038259 c.2357C>T p.T786M missense 0.00001868●●●●●●
93. 62038591 c.2025C>G p.D675E missense 0.00001829●●●●●●
94. 62038239 c.2377G>T p.V793L missense 0.00001825●●●●●●
95. 62038593 c.2023G>A p.D675N missense 0.00001822●●●●●●
96. 62038647 c.1969G>A p.A657T missense 0.00001765●●●●●●
97. 62038661 c.1955C>T p.P652L missense 0.00001760●●●●●●
98. 62038661 c.1955C>G p.P652R missense 0.00001760●●●●●●
99. 62044940 c.1632-6delC splice site 0.00001706●●●●●●
100. 62045552 c.1526-6C>T splice site 0.00001700●●●●●●
101. 62046376 c.1405G>A p.A469T missense 0.00001688●●●●●●
102. 62046373 c.1408G>A p.D470N missense 0.00001687●●●●●●
103. 62045527 c.1545G>T p.E515D missense 0.00001672●●●●●●
104. 62046316 c.1465C>G p.R489G missense 0.00001670●●●●●●
105. 62045493 c.1579T>A p.F527I missense 0.00001666●●●●●●
106. 62045496 c.1576G>A p.E526K missense 0.00001666●●●●●●
107. 62045499 c.1573T>A p.C525S missense 0.00001666●●●●●●
108. 62046291 c.1490G>A p.R497H missense 0.00001664●●●●●●
109. 62071066 c.817-5C>T splice site 0.00001663●●●●●●
110. 62071067 c.817-6C>G splice site 0.00001663●●●●●●
111. 62076702 c.403G>A p.V135M missense 0.00001661●●●●●●
112. 62044876 c.1690G>A p.V564M missense 0.00001659●●●●●●
113. 62065264 c.1024-8C>T splice site 0.00001658●●●●●●
114. 62062720 c.1121C>T p.S374L missense 0.00001653●●●●●●
115. 62065171 c.1109C>T p.P370L missense 0.00001651●●●●●●
116. 62073863 c.712A>G p.I238V missense 0.00001648●●●●●●
117. 62038289 c.2327C>A p.P776H missense 0.00001519●●●●●●
118. 62038283 c.2333A>T p.E778V missense 0.00001407●●●●●●
119. 62038535 c.2081G>C p.S694T missense 0.00001399●●●●●●
120. 62038022 c.2594T>G p.V865G missense 0.00001391●●●●●●
121. 62038061 c.2555C>T p.P852L missense 0.00001301●●●●●●
122. 62050964 c.1301+8G>C splice site 0.00001259●●●●●●
123. 62038544 c.2072G>A p.R691H missense 0.00001222●●●●●●
124. 62038073 c.2543C>T p.P848L missense 0.00001214●●●●●●
125. 62038076 c.2540C>T p.T847I missense 0.00001186●●●●●●
126. 62076173 c.529A>G p.I177V missense 0.00001145●●●●●●
127. 62076131 c.571G>A p.V191I missense 0.00001144●●●●●●
128. 62051029 c.1248-4C>G splice site 0.00001130●●●●●●
129. 62038549 c.2067C>G p.I689M missense 0.00001117●●●●●●
130. 62051027 c.1248-2delA essential splice site 0.00001115●●●●●●
131. 62050984 c.1289C>T p.P430L missense 0.00001091●●●●●●
132. 62051014 c.1259C>T p.P420L missense 0.00001085●●●●●●
133. 62039843 c.1810C>A p.R604S missense 0.00001042●●●●●●
134. 62039839 c.1814C>G p.T605S missense 0.00001040●●●●●●
135. 62039860 c.1793C>T p.A598V missense 0.00001030●●●●●●
136. 62039863 c.1790C>A p.P597Q missense 0.00001025●●●●●●
137. 62039876 c.1777G>A p.V593M missense 0.00001013●●●●●●
138. 62039897 c.1764-8C>A splice site 0.00001012●●●●●●
139. 62039804 c.1849C>T p.P617S missense 0.00000999●●●●●●
140. 62038112 c.2504C>T p.A835V missense 0.00000929●●●●●●
141. 62038251 c.2365T>G p.S789A missense 0.00000922●●●●●●
142. 62038610 c.2006C>T p.P669L missense 0.00000918●●●●●●
143. 62038616 c.2000C>T p.A667V missense 0.00000905●●●●●●
144. 62038619 c.1997C>T p.P666L missense 0.00000901●●●●●●
145. 62038217 c.2399G>A p.R800H missense 0.00000899●●●●●●
146. 62038626 c.1990C>T p.P664S missense 0.00000894●●●●●●
147. 62038190 c.2426A>T p.Q809L missense 0.00000891●●●●●●
148. 62038146 c.2470G>C p.V824L missense 0.00000888●●●●●●
149. 62038731 c.1888-3C>T splice site 0.00000887●●●●●●
150. 62038152 c.2464G>C p.A822P missense 0.00000886●●●●●●
151. 62038640 c.1976T>C p.F659S missense 0.00000885●●●●●●
152. 62038643 c.1973A>G p.Y658C missense 0.00000885●●●●●●
153. 62038650 c.1966G>A p.E656K missense 0.00000882●●●●●●
154. 62038661 c.1955C>A p.P652Q missense 0.00000880●●●●●●
155. 62038695 c.1921G>A p.V641M missense 0.00000878●●●●●●
156. 62038677 c.1939C>T p.R647W missense 0.00000878●●●●●●
157. 62038670 c.1946G>C p.G649A missense 0.00000878●●●●●●
158. 62038674 c.1942A>T p.M648L missense 0.00000878●●●●●●
159. 62038679 c.1937A>G p.Q646R missense 0.00000877●●●●●●
160. 62038683 c.1933A>G p.M645V missense 0.00000877●●●●●●
161. 62046462 c.1319A>G p.K440R missense 0.00000874●●●●●●
162. 62046472 c.1309G>A p.V437I missense 0.00000869●●●●●●
163. 62046459 c.1322A>G p.D441G missense 0.00000868●●●●●●
164. 62046468 c.1313G>C p.S438T missense 0.00000860●●●●●●
165. 62046438 c.1343G>A p.R448Q missense 0.00000856●●●●●●
166. 62046436 c.1345G>A p.G449S missense 0.00000855●●●●●●
167. 62045554 c.1526-8C>A splice site 0.00000854●●●●●●
168. 62046414 c.1367G>A p.G456E missense 0.00000851●●●●●●
169. 62045549 c.1526-3C>T splice site 0.00000848●●●●●●
170. 62046388 c.1393C>T p.R465W missense 0.00000846●●●●●●
171. 62044938 c.1632-4G>T splice site 0.00000844●●●●●●
172. 62046361 c.1420G>A p.E474K missense 0.00000841●●●●●●
173. 62044940 c.1632-6C>T splice site 0.00000840●●●●●●
174. 62044937 c.1632-3C>A splice site 0.00000840●●●●●●
175. 62044933 c.1633G>A p.V545I missense 0.00000837●●●●●●
176. 62045522 c.1550T>C p.I517T missense 0.00000835●●●●●●
177. 62045462 c.1610A>G p.K537R missense 0.00000835●●●●●●
178. 62044926 c.1640G>A p.R547Q missense 0.00000835●●●●●●
179. 62046322 c.1459G>A p.G487R missense 0.00000835●●●●●●
180. 62045514 c.1558G>A p.D520N missense 0.00000834●●●●●●
181. 62046304 c.1477C>T p.R493C missense 0.00000834●●●●●●
182. 62078113 c.374C>T p.A125V missense 0.00000834●●●●●●
183. 62045472 c.1600C>T p.P534S missense 0.00000834●●●●●●
184. 62045513 c.1559A>G p.D520G missense 0.00000834●●●●●●
185. 62046265 c.1516A>T p.N506Y missense 0.00000833●●●●●●
186. 62046295 c.1486T>A p.F496I missense 0.00000833●●●●●●
187. 62045483 c.1589A>C p.E530A missense 0.00000833●●●●●●
188. 62046298 c.1483G>C p.A495P missense 0.00000833●●●●●●
189. 62046253 c.1525+3G>A splice site 0.00000833●●●●●●
190. 62046276 c.1505C>T p.A502V missense 0.00000832●●●●●●
191. 62046270 c.1511G>A p.R504Q missense 0.00000832●●●●●●
192. 62076721 c.388-4G>C splice site 0.00000832●●●●●●
193. 62071069 c.817-8T>G splice site 0.00000832●●●●●●
194. 62078165 c.322G>A p.V108M missense 0.00000831●●●●●●
195. 62078175 c.312C>G p.F104L missense 0.00000831●●●●●●
196. 62078194 c.297-4C>A splice site 0.00000831●●●●●●
197. 62044909 c.1657C>T p.R553W missense 0.00000831●●●●●●
198. 62071059 c.819C>T splice site 0.00000831●●●●●●
199. 62078194 c.297-4C>T splice site 0.00000831●●●●●●
200. 62076678 c.427G>A p.V143M missense 0.00000830●●●●●●
201. 62076620 c.485A>G p.K162R missense 0.00000830●●●●●●
202. 62076605 c.500C>T p.P167L missense 0.00000830●●●●●●
203. 62076690 c.415G>A p.V139M missense 0.00000830●●●●●●
204. 62076641 c.464G>A p.R155H missense 0.00000830●●●●●●
205. 62069976 c.1023+2T>C essential splice site 0.00000830●●●●●●
206. 62076656 c.449G>A p.C150Y missense 0.00000830●●●●●●
207. 62076612 c.493C>T p.R165W missense 0.00000830●●●●●●
208. 62044867 c.1699G>A p.V567I missense 0.00000829●●●●●●
209. 62065256 c.1024T>C p.S342P missense 0.00000829●●●●●●
210. 62065264 c.1024-8C>G splice site 0.00000829●●●●●●
211. 62070992 c.886A>G p.T296A missense 0.00000829●●●●●●
212. 62065261 c.1024-5C>T splice site 0.00000829●●●●●●
213. 62065254 c.1026G>A splice site 0.00000828●●●●●●
214. 62062726 c.1119-4A>G splice site 0.00000827●●●●●●
215. 62062705 c.1136A>C p.Y379S missense 0.00000827●●●●●●
216. 62062718 c.1123C>G p.Q375E missense 0.00000827●●●●●●
217. 62062689 c.1148+4G>C splice site 0.00000827●●●●●●
218. 62065231 c.1049A>G p.N350S missense 0.00000827●●●●●●
219. 62065183 c.1097C>T p.T366M missense 0.00000826●●●●●●
220. 62073887 c.691-3C>T splice site 0.00000825●●●●●●
221. 62065156 c.1118+6G>A splice site 0.00000825●●●●●●
222. 62065154 c.1118+8C>T splice site 0.00000825●●●●●●
223. 62073800 c.775G>A p.D259N missense 0.00000824●●●●●●
224. 62073800 c.775G>C p.D259H 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.