KCNJ8 missense variants in ExAC

KCNJ8 gene summary
KCNJ8 variants in

The table below lists the KCNJ8 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. 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. 21918865 c.1067G>A p.R356Q missense 0.00002471●●●●●●
9. 21918965 c.967C>T p.R323C missense 0.00002471●●●●●●
10. 21918877 c.1055G>A p.R352Q missense 0.00002471●●●●●●
11. 21926198 c.353C>G p.T118S missense 0.00001668●●●●●●
12. 21926219 c.332A>G p.E111G missense 0.00001655●●●●●●
13. 21926484 c.67C>G p.R23G missense 0.00001649●●●●●●
14. 21926400 c.151C>T p.R51C missense 0.00001647●●●●●●
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. 21919549 c.383C>T p.T128I missense 0.00000878●●●●●●
19. 21926198 c.353C>T p.T118I missense 0.00000834●●●●●●
20. 21919483 c.449A>T p.E150V missense 0.00000834●●●●●●
21. 21919462 c.470C>T p.T157M missense 0.00000830●●●●●●
22. 21926208 c.343T>A p.L115M missense 0.00000830●●●●●●
23. 21919436 c.496G>A p.G166S missense 0.00000827●●●●●●
24. 21926220 c.331G>C p.E111Q missense 0.00000827●●●●●●
25. 21926222 c.329T>C p.M110T missense 0.00000827●●●●●●
26. 21926221 c.330G>A p.M110I missense 0.00000827●●●●●●
27. 21919435 c.497G>C p.G166A missense 0.00000826●●●●●●
28. 21926496 c.55G>A p.A19T missense 0.00000826●●●●●●
29. 21926505 c.46C>T p.R16C missense 0.00000826●●●●●●
30. 21919112 c.820C>T p.R274C missense 0.00000825●●●●●●
31. 21919179 c.753T>G p.D251E missense 0.00000825●●●●●●
32. 21919165 c.767G>A p.S256N missense 0.00000825●●●●●●
33. 21918738 c.1194C>G p.I398M missense 0.00000824●●●●●●
34. 21926448 c.103C>G p.R35G missense 0.00000824●●●●●●
35. 21926294 c.257T>A p.L86H missense 0.00000824●●●●●●
36. 21919255 c.677G>A p.R226H missense 0.00000824●●●●●●
37. 21918736 c.1196G>A p.R399Q missense 0.00000824●●●●●●
38. 21918715 c.1217T>C p.M406T missense 0.00000824●●●●●●
39. 21918935 c.997G>A p.G333R missense 0.00000824●●●●●●
40. 21926433 c.118A>T p.S40C missense 0.00000824●●●●●●
41. 21919331 c.601G>A p.V201I missense 0.00000824●●●●●●
42. 21918878 c.1054C>T p.R352W missense 0.00000824●●●●●●
43. 21918774 c.1158G>A p.M386I missense 0.00000824●●●●●●
44. 21919080 c.852C>A p.D284E missense 0.00000824●●●●●●
45. 21926395 c.156G>T p.E52D missense 0.00000824●●●●●●
46. 21919256 c.676C>T p.R226C missense 0.00000824●●●●●●
47. 21918863 c.1069G>C p.E357Q missense 0.00000824●●●●●●
48. 21918718 c.1214T>C p.L405P missense 0.00000824●●●●●●
49. 21918947 c.985A>G p.T329A missense 0.00000824●●●●●●
50. 21926463 c.88C>T p.R30C missense 0.00000824●●●●●●
51. 21919345 c.587A>G p.H196R missense 0.00000824●●●●●●
52. 21919327 c.605G>A p.R202Q missense 0.00000824●●●●●●
53. 21918784 c.1148G>A p.R383H missense 0.00000824●●●●●●
54. 21918677 c.1255C>G p.Q419E missense 0.00000824●●●●●●
55. 21919270 c.662T>C p.I221T missense 0.00000824●●●●●●
56. 21926265 c.286T>G p.F96V missense 0.00000824●●●●●●
57. 21918724 c.1208C>G p.S403C missense 0.00000824●●●●●●
58. 21926468 c.83G>A p.R28Q missense 0.00000824●●●●●●
59. 21919348 c.584G>T p.R195L missense 0.00000824●●●●●●
60. 21926255 c.296G>C p.G99A missense 0.00000824●●●●●●
61. 21926256 c.295G>A p.G99R missense 0.00000824●●●●●●
62. 21919231 c.701C>T p.T234I missense 0.00000824●●●●●●
63. 21918694 c.1238T>C p.M413T missense 0.00000824●●●●●●
64. 21926433 c.118A>C p.S40R missense 0.00000824●●●●●●
65. 21919300 c.632G>A p.R211Q 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.