KCNK3 variants in ExAC

KCNK3 gene summary
KCNK3 variants in

The table below lists the KCNK3 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. 26951391 c.1140C>G p.S380R missense 0.00101366●●●●●●
2. 26950674 c.423C>A p.H141Q missense 0.00062898●●●●●●
3. 26951204 c.953G>A p.R318H missense 0.00049582●●●●●●
4. 26951083 c.832A>T p.S278C missense 0.00033124●●●●●●
5. 26951333 c.1082G>T p.C361F missense 0.00018072●●●●●●
6. 26951078 c.827G>A p.G276D missense 0.00016727●●●●●●
7. 26916032 c.283+6G>T splice site 0.00012823●●●●●●
8. 26951297 c.1046G>T p.G349V missense 0.00011893●●●●●●
9. 26951053 c.802G>C p.G268R missense 0.00010370●●●●●●
10. 26915780 c.37G>T p.V13L missense 0.00008909●●●●●●
11. 26951104 c.853G>T p.A285S missense 0.00007575●●●●●●
12. 26951105 c.854C>T p.A285V missense 0.00007496●●●●●●
13. 26951197 c.946A>G p.K316E missense 0.00007259●●●●●●
14. 26951123 c.872C>T p.A291V missense 0.00006843●●●●●●
15. 26951051 c.800A>G p.N267S missense 0.00006461●●●●●●
16. 26951224 c.973A>G p.I325V missense 0.00006306●●●●●●
17. 26951345 c.1094G>A p.G365E missense 0.00006109●●●●●●
18. 26951240 c.989C>A p.P330Q missense 0.00005942●●●●●●
19. 26915837 c.94G>C p.E32Q missense 0.00005224●●●●●●
20. 26915895 c.152G>T p.R51L missense 0.00004907●●●●●●
21. 26915846 c.103C>A p.L35M missense 0.00004695●●●●●●
22. 26951378 c.1127C>T p.T376M missense 0.00004226●●●●●●
23. 26951374 c.1123T>A p.S375T missense 0.00004083●●●●●●
24. 26915862 c.119G>T p.R40L missense 0.00003989●●●●●●
25. 26951059 c.808G>A p.A270T missense 0.00003933●●●●●●
26. 26951063 c.812G>A p.G271D missense 0.00003878●●●●●●
27. 26951105 c.854C>A p.A285D missense 0.00003748●●●●●●
28. 26951111 c.860C>A p.S287Y missense 0.00003668●●●●●●
29. 26951116 c.865G>A p.A289T missense 0.00003650●●●●●●
30. 26915876 c.133C>G p.Q45E missense 0.00003427●●●●●●
31. 26951353 c.1102C>T p.R368C missense 0.00003396●●●●●●
32. 26951348 c.1097C>T p.A366V missense 0.00003394●●●●●●
33. 26951002 c.751G>A p.A251T missense 0.00003272●●●●●●
34. 26951048 c.797G>T p.R266L missense 0.00003211●●●●●●
35. 26951048 c.797G>A p.R266H missense 0.00003211●●●●●●
36. 26951128 c.877G>T p.G293C missense 0.00003178●●●●●●
37. 26951344 c.1093G>C p.G365R missense 0.00003067●●●●●●
38. 26951344 c.1093G>A p.G365R missense 0.00003067●●●●●●
39. 26951134 c.883G>A p.G295S missense 0.00002934●●●●●●
40. 26951026 c.775G>A p.E259K missense 0.00002587●●●●●●
41. 26951333 c.1082G>A p.C361Y missense 0.00002582●●●●●●
42. 26951318 c.1067C>G p.T356R missense 0.00002144●●●●●●
43. 26951171 c.920A>G p.Q307R missense 0.00002084●●●●●●
44. 26950545 c.294C>G p.H98Q missense 0.00001817●●●●●●
45. 26950674 c.423C>G p.H141Q missense 0.00001700●●●●●●
46. 26951005 c.754G>A p.E252K missense 0.00001699●●●●●●
47. 26951294 c.1043G>C p.G348A missense 0.00001648●●●●●●
48. 26915915 c.172G>T p.G58C missense 0.00001605●●●●●●
49. 26915915 c.172G>A p.G58S missense 0.00001605●●●●●●
50. 26951221 c.970T>C p.S324P missense 0.00001604●●●●●●
51. 26951224 c.973A>C p.I325L missense 0.00001577●●●●●●
52. 26951227 c.976C>T p.P326S missense 0.00001547●●●●●●
53. 26950979 c.728T>C p.V243A missense 0.00001194●●●●●●
54. 26915946 c.203G>A p.R68H missense 0.00001022●●●●●●
55. 26915957 c.214C>G p.H72D missense 0.00000952●●●●●●
56. 26915958 c.215A>T p.H72L missense 0.00000949●●●●●●
57. 26915961 c.218_219delAG p.Lys73SerfsTer564 frameshift 0.00000944●●●●●●
58. 26915963 c.220G>T p.A74S missense 0.00000939●●●●●●
59. 26915979 c.236G>C p.R79P missense 0.00000931●●●●●●
60. 26950539 c.288C>A p.Y96X nonsense 0.00000910●●●●●●
61. 26950585 c.334T>C p.F112L missense 0.00000904●●●●●●
62. 26950669 c.418C>A p.L140M missense 0.00000853●●●●●●
63. 26950921 c.670A>T p.S224C missense 0.00000850●●●●●●
64. 26950676 c.425G>A p.R142H missense 0.00000849●●●●●●
65. 26950676 c.425G>T p.R142L missense 0.00000849●●●●●●
66. 26950916 c.665C>T p.A222V missense 0.00000845●●●●●●
67. 26950699 c.448C>T p.R150W missense 0.00000840●●●●●●
68. 26950705 c.454G>A p.A152T missense 0.00000835●●●●●●
69. 26950886 c.635A>G p.Q212R missense 0.00000829●●●●●●
70. 26950726 c.475_476delAT p.Met159GlyfsTer478 frameshift 0.00000827●●●●●●
71. 26950780 c.529G>A p.A177T missense 0.00000826●●●●●●
72. 26950799 c.548A>G p.H183R missense 0.00000825●●●●●●

* 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.