KCNJ5 missense variants in ExAC

KCNJ5 gene summary
KCNJ5 variants in

The table below lists the KCNJ5 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. 128782012 c.844C>G p.Q282E missense 0.98647932●●●●●●
2. 128781289 c.121C>T p.R41C missense 0.00149972●●●●●●
3. 128781798 c.630G>A p.M210I missense 0.00017616●●●●●●
4. 128786525 c.1159G>C p.G387R missense 0.00013541●●●●●●
5. 128781301 c.133G>A p.E45K missense 0.00010711●●●●●●
6. 128786447 c.1081A>G p.S361G missense 0.00010710●●●●●●
7. 128781607 c.439G>A p.E147K missense 0.00009060●●●●●●
8. 128786517 c.1151C>G p.P384R missense 0.00006727●●●●●●
9. 128786490 c.1124G>A p.R375Q missense 0.00006606●●●●●●
10. 128781283 c.115C>T p.R39C missense 0.00005769●●●●●●
11. 128781290 c.122G>A p.R41H missense 0.00005768●●●●●●
12. 128781907 c.739G>A p.G247R missense 0.00004189●●●●●●
13. 128786489 c.1123C>T p.R375W missense 0.00004128●●●●●●
14. 128781287 c.119C>T p.T40M missense 0.00004120●●●●●●
15. 128786333 c.967A>G p.M323V missense 0.00004119●●●●●●
16. 128781704 c.536A>G p.N179S missense 0.00004118●●●●●●
17. 128786586 c.1220A>G p.K407R missense 0.00004055●●●●●●
18. 128781892 c.724C>T p.R242W missense 0.00003383●●●●●●
19. 128781799 c.631C>T p.R211W missense 0.00003361●●●●●●
20. 128781178 c.10G>A p.D4N missense 0.00003324●●●●●●
21. 128786499 c.1133A>G p.Q378R missense 0.00003313●●●●●●
22. 128781481 c.313G>A p.G105S missense 0.00003295●●●●●●
23. 128781317 c.149G>A p.R50H missense 0.00003295●●●●●●
24. 128786619 c.1253C>T p.S418L missense 0.00002965●●●●●●
25. 128786556 c.1190A>G p.E397G missense 0.00002645●●●●●●
26. 128781827 c.659G>A p.R220Q missense 0.00002551●●●●●●
27. 128782091 c.923T>G p.M308R missense 0.00002540●●●●●●
28. 128781893 c.725G>A p.R242Q missense 0.00002534●●●●●●
29. 128781221 c.53C>T p.T18I missense 0.00002475●●●●●●
30. 128781316 c.148C>T p.R50C missense 0.00002471●●●●●●
31. 128781598 c.430A>G p.I144V missense 0.00002471●●●●●●
32. 128781442 c.274G>A p.V92I missense 0.00002471●●●●●●
33. 128781559 c.391G>A p.E131K missense 0.00002471●●●●●●
34. 128781323 c.155G>A p.R52H missense 0.00002471●●●●●●
35. 128786552 c.1186G>A p.A396T missense 0.00001745●●●●●●
36. 128781842 c.674G>A p.R225H missense 0.00001707●●●●●●
37. 128781871 c.703C>T p.R235W missense 0.00001704●●●●●●
38. 128781826 c.658C>T p.R220W missense 0.00001701●●●●●●
39. 128781805 c.637G>A p.E213K missense 0.00001684●●●●●●
40. 128782021 c.853C>A p.P285T missense 0.00001672●●●●●●
41. 128781916 c.748A>T p.I250F missense 0.00001670●●●●●●
42. 128781784 c.616G>A p.A206T missense 0.00001664●●●●●●
43. 128782003 c.835G>A p.E279K missense 0.00001658●●●●●●
44. 128781943 c.775G>A p.V259M missense 0.00001655●●●●●●
45. 128781956 c.788C>T p.T263M missense 0.00001654●●●●●●
46. 128781257 c.89G>A p.R30H missense 0.00001649●●●●●●
47. 128781313 c.145C>A p.P49T missense 0.00001648●●●●●●
48. 128781644 c.476A>G p.E159G missense 0.00001647●●●●●●
49. 128781643 c.475G>C p.E159Q missense 0.00001647●●●●●●
50. 128781583 c.415G>A p.A139T missense 0.00001647●●●●●●
51. 128786569 c.1203T>G p.N401K missense 0.00000919●●●●●●
52. 128786550 c.1184A>C p.D395A missense 0.00000868●●●●●●
53. 128786546 c.1180C>A p.L394M missense 0.00000863●●●●●●
54. 128786544 c.1178G>A p.G393E missense 0.00000860●●●●●●
55. 128786535 c.1169C>T p.A390V missense 0.00000853●●●●●●
56. 128781859 c.691G>C p.E231Q missense 0.00000853●●●●●●
57. 128781841 c.673C>T p.R225C missense 0.00000853●●●●●●
58. 128781833 c.665G>A p.G222D missense 0.00000852●●●●●●
59. 128781835 c.667G>A p.D223N missense 0.00000852●●●●●●
60. 128786532 c.1166G>A p.C389Y missense 0.00000850●●●●●●
61. 128786529 c.1163G>A p.G388D missense 0.00000849●●●●●●
62. 128786528 c.1162G>T p.G388C missense 0.00000848●●●●●●
63. 128781822 c.654G>A p.M218I missense 0.00000848●●●●●●
64. 128786520 c.1154T>G p.L385R missense 0.00000844●●●●●●
65. 128782064 c.896T>C p.F299S missense 0.00000842●●●●●●
66. 128782061 c.893A>C p.E298A missense 0.00000841●●●●●●
67. 128781800 c.632G>A p.R211Q missense 0.00000840●●●●●●
68. 128781904 c.736G>A p.E246K missense 0.00000839●●●●●●
69. 128786508 c.1142C>A p.P381H missense 0.00000834●●●●●●
70. 128781169 c.1A>G p.Met1? missense 0.00000834●●●●●●
71. 128781927 c.759C>A p.N253K missense 0.00000830●●●●●●
72. 128781932 c.764C>T p.T255I missense 0.00000829●●●●●●
73. 128781961 c.793G>A p.D265N missense 0.00000827●●●●●●
74. 128781967 c.799C>T p.R267C missense 0.00000827●●●●●●
75. 128781947 c.779G>A p.G260D missense 0.00000827●●●●●●
76. 128786487 c.1121G>C p.G374A missense 0.00000825●●●●●●
77. 128786487 c.1121G>T p.G374V missense 0.00000825●●●●●●
78. 128781237 c.69G>C p.K23N missense 0.00000825●●●●●●
79. 128781211 c.43A>C p.I15L missense 0.00000825●●●●●●
80. 128786487 c.1121G>A p.G374D missense 0.00000825●●●●●●
81. 128781218 c.50T>A p.V17D missense 0.00000825●●●●●●
82. 128781215 c.47G>A p.G16E missense 0.00000825●●●●●●
83. 128786482 c.1116G>C p.R372S missense 0.00000825●●●●●●
84. 128781223 c.55C>T p.P19S missense 0.00000825●●●●●●
85. 128786436 c.1070C>T p.T357I missense 0.00000824●●●●●●
86. 128781632 c.464G>A p.R155Q missense 0.00000824●●●●●●
87. 128786361 c.995G>A p.R332Q missense 0.00000824●●●●●●
88. 128786309 c.943A>G p.T315A missense 0.00000824●●●●●●
89. 128781439 c.271C>T p.L91F missense 0.00000824●●●●●●
90. 128781680 c.512A>C p.Q171P missense 0.00000824●●●●●●
91. 128781530 c.362T>C p.V121A missense 0.00000824●●●●●●
92. 128786413 c.1047C>G p.N349K missense 0.00000824●●●●●●
93. 128781544 c.376T>C p.W126R missense 0.00000824●●●●●●
94. 128781364 c.196A>G p.N66D missense 0.00000824●●●●●●
95. 128781416 c.248A>C p.D83A missense 0.00000824●●●●●●
96. 128781284 c.116G>A p.R39H missense 0.00000824●●●●●●
97. 128781722 c.554G>T p.C185F missense 0.00000824●●●●●●
98. 128781632 c.464G>T p.R155L missense 0.00000824●●●●●●
99. 128781543 c.375G>C p.E125D missense 0.00000824●●●●●●
100. 128781649 c.481T>C p.C161R missense 0.00000824●●●●●●
101. 128786375 c.1009C>T p.L337F missense 0.00000824●●●●●●
102. 128781511 c.343C>T p.R115W missense 0.00000824●●●●●●
103. 128786321 c.955C>T p.R319W missense 0.00000824●●●●●●
104. 128781317 c.149G>C p.R50P missense 0.00000824●●●●●●
105. 128781700 c.532G>A p.V178I missense 0.00000824●●●●●●
106. 128781675 c.507G>T p.L169F missense 0.00000824●●●●●●
107. 128786415 c.1049C>T p.T350I missense 0.00000824●●●●●●
108. 128781427 c.259C>T p.R87C missense 0.00000824●●●●●●
109. 128781641 c.473C>G p.T158R missense 0.00000824●●●●●●
110. 128781271 c.103A>G p.I35V missense 0.00000824●●●●●●
111. 128781340 c.172G>A p.G58S missense 0.00000824●●●●●●
112. 128781659 c.491G>C p.G164A missense 0.00000824●●●●●●
113. 128786388 c.1022A>G p.K341R missense 0.00000824●●●●●●
114. 128781528 c.360T>G p.H120Q missense 0.00000824●●●●●●
115. 128781382 c.214C>T p.R72W missense 0.00000824●●●●●●
116. 128781709 c.541T>A p.F181I missense 0.00000824●●●●●●
117. 128786427 c.1061C>T p.T354I missense 0.00000824●●●●●●
118. 128781611 c.443C>A p.T148K missense 0.00000824●●●●●●
119. 128781428 c.260G>A p.R87H missense 0.00000824●●●●●●
120. 128781467 c.299C>A p.T100N missense 0.00000824●●●●●●
121. 128786340 c.974C>T p.T325I missense 0.00000824●●●●●●
122. 128781510 c.342C>G p.I114M missense 0.00000824●●●●●●
123. 128781670 c.502C>T p.L168F missense 0.00000824●●●●●●
124. 128781512 c.344G>A p.R115Q missense 0.00000824●●●●●●
125. 128781482 c.314G>C p.G105A missense 0.00000824●●●●●●
126. 128786411 c.1045A>G p.N349D missense 0.00000824●●●●●●
127. 128781535 c.367G>A p.D123N missense 0.00000824●●●●●●
128. 128781403 c.235A>G p.T79A missense 0.00000824●●●●●●
129. 128781343 c.175A>C p.K59Q missense 0.00000824●●●●●●
130. 128781714 c.546G>T p.M182I missense 0.00000824●●●●●●
131. 128781358 c.190C>T p.H64Y 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.