CLCNKA missense variants in ExAC

CLCNKA gene summary
CLCNKA variants in

The table below lists the CLCNKA 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. 16351275 c.247A>G p.R83G missense 0.56363892●●●●●●
2. 16356501 c.1339G>A p.A447T missense 0.56122229●●●●●●
3. 16354590 c.944A>T p.Y315F missense 0.20701425●●●●●●
4. 16360137 c.2048C>T p.P683L missense 0.07955113●●●●●●
5. 16357147 c.1600C>T p.R534W missense 0.07875388●●●●●●
6. 16356522 c.1360A>G p.T454A missense 0.07782373●●●●●●
7. 16356531 c.1369G>A p.V457I missense 0.07741480●●●●●●
8. 16355638 c.1071T>A p.H357Q missense 0.07668914●●●●●●
9. 16349137 c.23G>A p.R8H missense 0.03833675●●●●●●
10. 16355287 c.1000C>G p.L334V missense 0.02241712●●●●●●
11. 16357159 c.1612C>T p.R538C missense 0.00256389●●●●●●
12. 16354581 c.935C>T p.T312I missense 0.00243094●●●●●●
13. 16350417 c.223G>T p.V75F missense 0.00201204●●●●●●
14. 16358248 c.1666A>G p.T556A missense 0.00142658●●●●●●
15. 16359717 c.1982G>A p.R661Q missense 0.00135206●●●●●●
16. 16359674 c.1939C>T p.L647F missense 0.00131915●●●●●●
17. 16351338 c.310G>A p.V104I missense 0.00117942●●●●●●
18. 16356971 c.1424C>T p.S475L missense 0.00114958●●●●●●
19. 16351266 c.238T>G p.W80G missense 0.00070329●●●●●●
20. 16350315 c.121C>A p.Q41K missense 0.00069340●●●●●●
21. 16350328 c.134G>A p.R45H missense 0.00059406●●●●●●
22. 16356535 c.1373C>A p.T458N missense 0.00054935●●●●●●
23. 16355714 c.1147G>T p.D383Y missense 0.00052208●●●●●●
24. 16355763 c.1196T>A p.F399Y missense 0.00036467●●●●●●
25. 16357097 c.1550C>T p.P517L missense 0.00034334●●●●●●
26. 16354586 c.940C>G p.R314G missense 0.00029666●●●●●●
27. 16357117 c.1570A>G p.I524V missense 0.00022624●●●●●●
28. 16357148 c.1601G>A p.R534Q missense 0.00015016●●●●●●
29. 16349203 c.89G>A p.R30Q missense 0.00010881●●●●●●
30. 16349188 c.74G>A p.C25Y missense 0.00009909●●●●●●
31. 16355670 c.1103C>T p.A368V missense 0.00009168●●●●●●
32. 16349146 c.32T>C p.F11S missense 0.00008587●●●●●●
33. 16353256 c.641C>G p.A214G missense 0.00008309●●●●●●
34. 16358267 c.1685C>T p.T562M missense 0.00008294●●●●●●
35. 16356498 c.1336G>A p.V446I missense 0.00008275●●●●●●
36. 16357001 c.1454C>T p.A485V missense 0.00007562●●●●●●
37. 16358308 c.1726G>A p.V576M missense 0.00007467●●●●●●
38. 16358728 c.1787G>A p.R596K missense 0.00006829●●●●●●
39. 16358297 c.1715C>T p.T572I missense 0.00006636●●●●●●
40. 16358254 c.1672C>A p.L558M missense 0.00005805●●●●●●
41. 16355747 c.1180C>T p.P394S missense 0.00005799●●●●●●
42. 16355293 c.1006G>A p.A336T missense 0.00005776●●●●●●
43. 16351372 c.344C>T p.T115M missense 0.00005773●●●●●●
44. 16349205 c.91G>A p.A31T missense 0.00005517●●●●●●
45. 16349200 c.86G>A p.R29H missense 0.00005332●●●●●●
46. 16349199 c.85C>T p.R29C missense 0.00005276●●●●●●
47. 16357036 c.1489C>T p.H497Y missense 0.00005019●●●●●●
48. 16358314 c.1732G>A p.E578K missense 0.00004977●●●●●●
49. 16358975 c.1883C>T p.T628M missense 0.00004970●●●●●●
50. 16355309 c.1022C>T p.P341L missense 0.00004953●●●●●●
51. 16349181 c.67G>A p.G23S missense 0.00004775●●●●●●
52. 16349122 c.8A>C p.E3A missense 0.00004699●●●●●●
53. 16349136 c.22C>T p.R8C missense 0.00004434●●●●●●
54. 16349154 c.40G>A p.D14N missense 0.00004308●●●●●●
55. 16349160 c.46G>A p.V16M missense 0.00004279●●●●●●
56. 16359717 c.1982G>C p.R661P missense 0.00004122●●●●●●
57. 16356268 c.1270G>A p.G424R missense 0.00004120●●●●●●
58. 16358754 c.1813G>C p.A605P missense 0.00003433●●●●●●
59. 16357048 c.1501G>A p.V501M missense 0.00003350●●●●●●
60. 16353903 c.754C>T p.L252F missense 0.00003325●●●●●●
61. 16355750 c.1183C>T p.R395W missense 0.00003314●●●●●●
62. 16353061 c.529G>A p.A177T missense 0.00003306●●●●●●
63. 16359737 c.2002G>A p.V668M missense 0.00003299●●●●●●
64. 16350363 c.169G>A p.G57R missense 0.00003298●●●●●●
65. 16350415 c.221T>C p.V74A missense 0.00003298●●●●●●
66. 16356277 c.1279A>G p.M427V missense 0.00003296●●●●●●
67. 16358775 c.1834C>G p.P612A missense 0.00002599●●●●●●
68. 16357073 c.1526A>G p.N509S missense 0.00002525●●●●●●
69. 16356552 c.1390G>A p.G464R missense 0.00002512●●●●●●
70. 16357022 c.1475C>G p.T492S missense 0.00002511●●●●●●
71. 16357160 c.1613G>A p.R538H missense 0.00002507●●●●●●
72. 16356514 c.1352G>A p.G451D missense 0.00002489●●●●●●
73. 16353850 c.701G>C p.R234P missense 0.00002485●●●●●●
74. 16353852 c.703G>T p.D235Y missense 0.00002485●●●●●●
75. 16353034 c.502C>T p.P168S missense 0.00002485●●●●●●
76. 16355751 c.1184G>A p.R395Q missense 0.00002485●●●●●●
77. 16355338 c.1051C>T p.R351W missense 0.00002477●●●●●●
78. 16355285 c.998T>G p.L333W missense 0.00002475●●●●●●
79. 16355293 c.1006G>C p.A336P missense 0.00002475●●●●●●
80. 16350366 c.172G>T p.V58L missense 0.00002474●●●●●●
81. 16350409 c.215G>T p.G72V missense 0.00002474●●●●●●
82. 16354526 c.880G>T p.V294F missense 0.00002472●●●●●●
83. 16352630 c.386T>C p.M129T missense 0.00002471●●●●●●
84. 16358760 c.1819C>T p.P607S missense 0.00001720●●●●●●
85. 16356965 c.1418C>A p.A473D missense 0.00001707●●●●●●
86. 16358720 c.1779C>G p.I593M missense 0.00001705●●●●●●
87. 16356567 c.1405G>T p.A469S missense 0.00001688●●●●●●
88. 16356555 c.1393G>A p.G465R missense 0.00001674●●●●●●
89. 16357024 c.1477G>A p.G493S missense 0.00001674●●●●●●
90. 16353921 c.772A>G p.S258G missense 0.00001666●●●●●●
91. 16355697 c.1130C>T p.P377L missense 0.00001660●●●●●●
92. 16358290 c.1708G>T p.V570F missense 0.00001660●●●●●●
93. 16358251 c.1669A>G p.T557A missense 0.00001659●●●●●●
94. 16358249 c.1667C>A p.T556N missense 0.00001659●●●●●●
95. 16353822 c.673G>A p.E225K missense 0.00001659●●●●●●
96. 16359018 c.1926C>A p.H642Q missense 0.00001658●●●●●●
97. 16355711 c.1144C>T p.L382F missense 0.00001658●●●●●●
98. 16358993 c.1901C>T p.T634M missense 0.00001657●●●●●●
99. 16358953 c.1861A>G p.I621V missense 0.00001656●●●●●●
100. 16356475 c.1313G>A p.R438H missense 0.00001655●●●●●●
101. 16356471 c.1309G>A p.G437R missense 0.00001655●●●●●●
102. 16356496 c.1334C>T p.A445V missense 0.00001655●●●●●●
103. 16356474 c.1312C>T p.R438C missense 0.00001655●●●●●●
104. 16355272 c.985G>A p.A329T missense 0.00001650●●●●●●
105. 16351302 c.274C>T p.R92W missense 0.00001650●●●●●●
106. 16354610 c.964A>G p.T322A missense 0.00001650●●●●●●
107. 16354590 c.944A>G p.Y315C missense 0.00001649●●●●●●
108. 16359726 c.1991C>T p.A664V missense 0.00001649●●●●●●
109. 16359678 c.1943T>C p.F648S missense 0.00001649●●●●●●
110. 16352716 c.472G>A p.G158S missense 0.00001648●●●●●●
111. 16354557 c.911G>A p.R304Q missense 0.00001648●●●●●●
112. 16354526 c.880G>A p.V294I missense 0.00001648●●●●●●
113. 16352627 c.383C>T p.T128I missense 0.00001647●●●●●●
114. 16358785 c.1844A>C p.Q615P missense 0.00000871●●●●●●
115. 16358764 c.1823C>T p.P608L missense 0.00000861●●●●●●
116. 16358752 c.1811A>G p.Q604R missense 0.00000858●●●●●●
117. 16356958 c.1411G>C p.A471P missense 0.00000858●●●●●●
118. 16358746 c.1805C>T p.A602V missense 0.00000856●●●●●●
119. 16358721 c.1780G>A p.V594M missense 0.00000853●●●●●●
120. 16358716 c.1775G>C p.G592A missense 0.00000853●●●●●●
121. 16356970 c.1423T>G p.S475A missense 0.00000852●●●●●●
122. 16356973 c.1426G>A p.G476R missense 0.00000850●●●●●●
123. 16356979 c.1432G>A p.V478M missense 0.00000847●●●●●●
124. 16356982 c.1435A>G p.T479A missense 0.00000846●●●●●●
125. 16357061 c.1514T>C p.V505A missense 0.00000845●●●●●●
126. 16357060 c.1513G>A p.V505M missense 0.00000843●●●●●●
127. 16356991 c.1444A>G p.I482V missense 0.00000843●●●●●●
128. 16357072 c.1525A>C p.N509H missense 0.00000842●●●●●●
129. 16357052 c.1505T>C p.L502P missense 0.00000842●●●●●●
130. 16357075 c.1528G>A p.A510T missense 0.00000841●●●●●●
131. 16356561 c.1399G>A p.A467T missense 0.00000840●●●●●●
132. 16357040 c.1493C>T p.A498V missense 0.00000837●●●●●●
133. 16357024 c.1477G>C p.G493R missense 0.00000837●●●●●●
134. 16357031 c.1484T>G p.I495R missense 0.00000837●●●●●●
135. 16357112 c.1565G>A p.G522D missense 0.00000837●●●●●●
136. 16357022 c.1475C>T p.T492I missense 0.00000837●●●●●●
137. 16357168 c.1621G>A p.G541S missense 0.00000836●●●●●●
138. 16353929 c.780G>C p.Q260H missense 0.00000835●●●●●●
139. 16357150 c.1603A>G p.I535V missense 0.00000834●●●●●●
140. 16357145 c.1598C>T p.P533L missense 0.00000834●●●●●●
141. 16353923 c.774C>G p.S258R missense 0.00000834●●●●●●
142. 16357152 c.1605T>G p.I535M missense 0.00000834●●●●●●
143. 16357148 c.1601G>T p.R534L missense 0.00000834●●●●●●
144. 16353918 c.769A>G p.N257D missense 0.00000833●●●●●●
145. 16360143 c.2054C>T p.A685V missense 0.00000833●●●●●●
146. 16360109 c.2020A>C p.K674Q missense 0.00000833●●●●●●
147. 16355670 c.1103C>G p.A368G missense 0.00000833●●●●●●
148. 16353910 c.761C>A p.A254E missense 0.00000832●●●●●●
149. 16353807 c.658G>C p.V220L missense 0.00000831●●●●●●
150. 16358206 c.1624T>C p.S542P missense 0.00000831●●●●●●
151. 16353899 c.750C>G p.F250L missense 0.00000831●●●●●●
152. 16353901 c.752G>C p.R251P missense 0.00000831●●●●●●
153. 16353885 c.736G>C p.G246R missense 0.00000830●●●●●●
154. 16358331 c.1749G>C p.E583D missense 0.00000830●●●●●●
155. 16358300 c.1718C>A p.S573Y missense 0.00000830●●●●●●
156. 16353817 c.668G>T p.S223I missense 0.00000830●●●●●●
157. 16358333 c.1751G>A p.S584N missense 0.00000830●●●●●●
158. 16358212 c.1630C>A p.H544N missense 0.00000830●●●●●●
159. 16353874 c.725C>G p.A242G missense 0.00000830●●●●●●
160. 16355778 c.1211T>A p.F404Y missense 0.00000830●●●●●●
161. 16353874 c.725C>T p.A242V missense 0.00000830●●●●●●
162. 16356507 c.1345C>T p.P449S missense 0.00000829●●●●●●
163. 16359014 c.1922T>C p.L641S missense 0.00000829●●●●●●
164. 16353865 c.716G>T p.G239V missense 0.00000829●●●●●●
165. 16355763 c.1196T>G p.F399C missense 0.00000829●●●●●●
166. 16355708 c.1141G>A p.E381K missense 0.00000829●●●●●●
167. 16355771 c.1204C>A p.L402I missense 0.00000829●●●●●●
168. 16359019 c.1927C>A p.Q643K missense 0.00000829●●●●●●
169. 16353828 c.679A>G p.M227V missense 0.00000829●●●●●●
170. 16358270 c.1688C>T p.P563L missense 0.00000829●●●●●●
171. 16359016 c.1924C>T p.H642Y missense 0.00000829●●●●●●
172. 16358242 c.1660A>G p.S554G missense 0.00000829●●●●●●
173. 16353863 c.714G>C p.R238S missense 0.00000829●●●●●●
174. 16353834 c.685T>C p.S229P missense 0.00000828●●●●●●
175. 16356465 c.1303G>T p.A435S missense 0.00000828●●●●●●
176. 16353835 c.686C>T p.S229F missense 0.00000828●●●●●●
177. 16355731 c.1164G>T p.W388C missense 0.00000828●●●●●●
178. 16353040 c.508G>C p.V170L missense 0.00000828●●●●●●
179. 16353040 c.508G>T p.V170L missense 0.00000828●●●●●●
180. 16353038 c.506T>C p.F169S missense 0.00000828●●●●●●
181. 16356492 c.1330C>T p.L444F missense 0.00000828●●●●●●
182. 16356474 c.1312C>A p.R438S missense 0.00000828●●●●●●
183. 16353856 c.707A>G p.Y236C missense 0.00000828●●●●●●
184. 16355748 c.1181C>T p.P394L missense 0.00000828●●●●●●
185. 16355722 c.1155G>C p.Q385H missense 0.00000828●●●●●●
186. 16353040 c.508G>A p.V170M missense 0.00000828●●●●●●
187. 16353035 c.503C>T p.P168L missense 0.00000828●●●●●●
188. 16355738 c.1171T>C p.W391R missense 0.00000828●●●●●●
189. 16353103 c.571C>G p.P191A missense 0.00000827●●●●●●
190. 16353044 c.512A>G p.H171R missense 0.00000827●●●●●●
191. 16351264 c.236A>G p.Q79R missense 0.00000827●●●●●●
192. 16353076 c.544C>G p.R182G missense 0.00000827●●●●●●
193. 16356477 c.1315C>T p.L439F missense 0.00000827●●●●●●
194. 16351273 c.245A>T p.Y82F missense 0.00000827●●●●●●
195. 16350303 c.109G>C p.E37Q missense 0.00000826●●●●●●
196. 16354614 c.968G>C p.S323T missense 0.00000826●●●●●●
197. 16355339 c.1052G>A p.R351Q missense 0.00000826●●●●●●
198. 16350306 c.112T>G p.W38G missense 0.00000826●●●●●●
199. 16355321 c.1034G>A p.G345D missense 0.00000825●●●●●●
200. 16350393 c.199A>G p.M67V missense 0.00000825●●●●●●
201. 16351316 c.288G>T p.W96C missense 0.00000825●●●●●●
202. 16350334 c.140G>A p.G47E missense 0.00000825●●●●●●
203. 16350408 c.214G>A p.G72R missense 0.00000825●●●●●●
204. 16350321 c.127G>A p.V43M missense 0.00000825●●●●●●
205. 16351357 c.329T>C p.F110S missense 0.00000825●●●●●●
206. 16359725 c.1990G>A p.A664T missense 0.00000825●●●●●●
207. 16351354 c.326G>A p.G109D missense 0.00000825●●●●●●
208. 16350372 c.178A>T p.M60L missense 0.00000825●●●●●●
209. 16351282 c.254T>C p.I85T missense 0.00000825●●●●●●
210. 16350327 c.133C>T p.R45C missense 0.00000825●●●●●●
211. 16351372 c.344C>A p.T115K missense 0.00000825●●●●●●
212. 16354604 c.958C>G p.L320V missense 0.00000825●●●●●●
213. 16350388 c.194A>G p.Y65C missense 0.00000825●●●●●●
214. 16355315 c.1028G>C p.G343A missense 0.00000825●●●●●●
215. 16355284 c.997T>A p.L333M missense 0.00000825●●●●●●
216. 16350334 c.140G>T p.G47V missense 0.00000825●●●●●●
217. 16359729 c.1994T>C p.V665A missense 0.00000825●●●●●●
218. 16351386 c.358G>A p.G120S missense 0.00000825●●●●●●
219. 16351295 c.267C>A p.H89Q missense 0.00000825●●●●●●
220. 16350396 c.202A>G p.N68D missense 0.00000825●●●●●●
221. 16354557 c.911G>C p.R304P missense 0.00000824●●●●●●
222. 16352675 c.431T>C p.F144S missense 0.00000824●●●●●●
223. 16354587 c.941G>A p.R314Q missense 0.00000824●●●●●●
224. 16354521 c.875G>A p.C292Y missense 0.00000824●●●●●●
225. 16356269 c.1271G>C p.G424A missense 0.00000824●●●●●●
226. 16359687 c.1952T>C p.L651S missense 0.00000824●●●●●●
227. 16354533 c.887G>A p.S296N missense 0.00000824●●●●●●
228. 16359714 c.1979C>T p.S660L missense 0.00000824●●●●●●
229. 16354574 c.928A>C p.I310L missense 0.00000824●●●●●●
230. 16352689 c.445G>T p.V149L missense 0.00000824●●●●●●
231. 16354523 c.877G>A p.G293S missense 0.00000824●●●●●●
232. 16359692 c.1957C>T p.L653F missense 0.00000824●●●●●●
233. 16352636 c.392C>T p.A131V missense 0.00000824●●●●●●
234. 16354542 c.896A>T p.Y299F missense 0.00000824●●●●●●
235. 16359716 c.1981C>T p.R661W missense 0.00000824●●●●●●
236. 16352690 c.446T>A p.V149E missense 0.00000824●●●●●●
237. 16352723 c.479C>A p.T160N missense 0.00000824●●●●●●
238. 16352615 c.371C>T p.P124L missense 0.00000824●●●●●●
239. 16359697 c.1962G>T p.Q654H missense 0.00000824●●●●●●
240. 16354587 c.941G>C p.R314P missense 0.00000824●●●●●●
241. 16352663 c.419A>G p.D140G missense 0.00000824●●●●●●
242. 16354584 c.938A>C p.N313T missense 0.00000824●●●●●●
243. 16356278 c.1280T>C p.M427T missense 0.00000824●●●●●●
244. 16352711 c.467C>T p.A156V missense 0.00000824●●●●●●
245. 16354515 c.869G>C p.G290A missense 0.00000824●●●●●●
246. 16359707 c.1972G>A p.V658M 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.