KCNJ8 variants in ExAC

KCNJ8 gene summary
KCNJ8 variants in

The table below lists the KCNJ8 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. 21918931 c.1001T>C p.V334A missense 0.00513213●●●●●●
2. 21918667 c.1265C>T p.S422L missense 0.00164764●●●●●●
3. 21926288 c.263C>G p.A88G missense 0.00031299●●●●●●
4. 21918896 c.1036G>A p.V346I missense 0.00009884●●●●●●
5. 21919111 c.821G>A p.R274H missense 0.00005774●●●●●●
6. 21926199 c.352A>G p.T118A missense 0.00003335●●●●●●
7. 21919065 c.867C>G p.D289E missense 0.00002472●●●●●●
8. 21918877 c.1055G>A p.R352Q missense 0.00002471●●●●●●
9. 21918865 c.1067G>A p.R356Q missense 0.00002471●●●●●●
10. 21918965 c.967C>T p.R323C missense 0.00002471●●●●●●
11. 21926172 c.374+5G>A splice site 0.00001694●●●●●●
12. 21926198 c.353C>G p.T118S missense 0.00001668●●●●●●
13. 21926219 c.332A>G p.E111G missense 0.00001655●●●●●●
14. 21926484 c.67C>G p.R23G missense 0.00001649●●●●●●
15. 21926342 c.209G>A p.R70H missense 0.00001647●●●●●●
16. 21918787 c.1145A>G p.K382R missense 0.00001647●●●●●●
17. 21926432 c.119G>C p.S40T missense 0.00001647●●●●●●
18. 21926400 c.151C>T p.R51C missense 0.00001647●●●●●●
19. 21919564 c.375-7C>T splice site 0.00000919●●●●●●
20. 21919549 c.383C>T p.T128I missense 0.00000878●●●●●●
21. 21926198 c.353C>T p.T118I missense 0.00000834●●●●●●
22. 21919483 c.449A>T p.E150V missense 0.00000834●●●●●●
23. 21919462 c.470C>T p.T157M missense 0.00000830●●●●●●
24. 21926208 c.343T>A p.L115M missense 0.00000830●●●●●●
25. 21926222 c.329T>C p.M110T missense 0.00000827●●●●●●
26. 21926221 c.330G>A p.M110I missense 0.00000827●●●●●●
27. 21919436 c.496G>A p.G166S missense 0.00000827●●●●●●
28. 21926220 c.331G>C p.E111Q missense 0.00000827●●●●●●
29. 21926505 c.46C>T p.R16C missense 0.00000826●●●●●●
30. 21926496 c.55G>A p.A19T missense 0.00000826●●●●●●
31. 21919435 c.497G>C p.G166A missense 0.00000826●●●●●●
32. 21919165 c.767G>A p.S256N missense 0.00000825●●●●●●
33. 21919179 c.753T>G p.D251E missense 0.00000825●●●●●●
34. 21919112 c.820C>T p.R274C missense 0.00000825●●●●●●
35. 21919331 c.601G>A p.V201I missense 0.00000824●●●●●●
36. 21919256 c.676C>T p.R226C missense 0.00000824●●●●●●
37. 21918694 c.1238T>C p.M413T missense 0.00000824●●●●●●
38. 21926276 c.275G>A p.W92X nonsense 0.00000824●●●●●●
39. 21918937 c.995_997delAAG inframe 0.00000824●●●●●●
40. 21918784 c.1148G>A p.R383H missense 0.00000824●●●●●●
41. 21918737 c.1195C>T p.R399X nonsense 0.00000824●●●●●●
42. 21919327 c.605G>A p.R202Q missense 0.00000824●●●●●●
43. 21926468 c.83G>A p.R28Q missense 0.00000824●●●●●●
44. 21919345 c.587A>G p.H196R missense 0.00000824●●●●●●
45. 21919270 c.662T>C p.I221T missense 0.00000824●●●●●●
46. 21918935 c.997G>A p.G333R missense 0.00000824●●●●●●
47. 21918730 c.1202dupA p.Asn401LysfsTer29 frameshift 0.00000824●●●●●●
48. 21918715 c.1217T>C p.M406T missense 0.00000824●●●●●●
49. 21926433 c.118A>C p.S40R missense 0.00000824●●●●●●
50. 21926294 c.257T>A p.L86H missense 0.00000824●●●●●●
51. 21926265 c.286T>G p.F96V missense 0.00000824●●●●●●
52. 21918736 c.1196G>A p.R399Q missense 0.00000824●●●●●●
53. 21918677 c.1255C>G p.Q419E missense 0.00000824●●●●●●
54. 21926255 c.296G>C p.G99A missense 0.00000824●●●●●●
55. 21919231 c.701C>T p.T234I missense 0.00000824●●●●●●
56. 21919348 c.584G>T p.R195L missense 0.00000824●●●●●●
57. 21919300 c.632G>A p.R211Q missense 0.00000824●●●●●●
58. 21919080 c.852C>A p.D284E missense 0.00000824●●●●●●
59. 21918947 c.985A>G p.T329A missense 0.00000824●●●●●●
60. 21919299 c.633delA p.Val212TrpfsTer4 frameshift 0.00000824●●●●●●
61. 21918718 c.1214T>C p.L405P missense 0.00000824●●●●●●
62. 21918738 c.1194C>G p.I398M missense 0.00000824●●●●●●
63. 21926433 c.118A>T p.S40C missense 0.00000824●●●●●●
64. 21926395 c.156G>T p.E52D missense 0.00000824●●●●●●
65. 21918863 c.1069G>C p.E357Q missense 0.00000824●●●●●●
66. 21919255 c.677G>A p.R226H missense 0.00000824●●●●●●
67. 21918677 c.1255C>T p.Q419X nonsense 0.00000824●●●●●●
68. 21926256 c.295G>A p.G99R missense 0.00000824●●●●●●
69. 21918774 c.1158G>A p.M386I missense 0.00000824●●●●●●
70. 21918724 c.1208C>G p.S403C missense 0.00000824●●●●●●
71. 21918878 c.1054C>T p.R352W missense 0.00000824●●●●●●
72. 21926463 c.88C>T p.R30C missense 0.00000824●●●●●●
73. 21926448 c.103C>G p.R35G 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.