KCNJ5 variants in ExAC

KCNJ5 gene summary
KCNJ5 variants in

The table below lists the KCNJ5 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. 128786294 c.938-10G>A splice site 0.73459813●●●●●●
3. 128782112 c.937+7C>T splice site 0.03060322●●●●●●
4. 128781289 c.121C>T p.R41C missense 0.00149972●●●●●●
5. 128786293 c.938-11C>T splice site 0.00113184●●●●●●
6. 128781798 c.630G>A p.M210I missense 0.00017616●●●●●●
7. 128786525 c.1159G>C p.G387R missense 0.00013541●●●●●●
8. 128781301 c.133G>A p.E45K missense 0.00010711●●●●●●
9. 128786447 c.1081A>G p.S361G missense 0.00010710●●●●●●
10. 128781607 c.439G>A p.E147K missense 0.00009060●●●●●●
11. 128786517 c.1151C>G p.P384R missense 0.00006727●●●●●●
12. 128786490 c.1124G>A p.R375Q missense 0.00006606●●●●●●
13. 128781283 c.115C>T p.R39C missense 0.00005769●●●●●●
14. 128781290 c.122G>A p.R41H missense 0.00005768●●●●●●
15. 128781907 c.739G>A p.G247R missense 0.00004189●●●●●●
16. 128786489 c.1123C>T p.R375W missense 0.00004128●●●●●●
17. 128781287 c.119C>T p.T40M missense 0.00004120●●●●●●
18. 128786333 c.967A>G p.M323V missense 0.00004119●●●●●●
19. 128781704 c.536A>G p.N179S missense 0.00004118●●●●●●
20. 128786586 c.1220A>G p.K407R missense 0.00004055●●●●●●
21. 128781892 c.724C>T p.R242W missense 0.00003383●●●●●●
22. 128781799 c.631C>T p.R211W missense 0.00003361●●●●●●
23. 128781178 c.10G>A p.D4N missense 0.00003324●●●●●●
24. 128786499 c.1133A>G p.Q378R missense 0.00003313●●●●●●
25. 128781481 c.313G>A p.G105S missense 0.00003295●●●●●●
26. 128781317 c.149G>A p.R50H missense 0.00003295●●●●●●
27. 128786619 c.1253C>T p.S418L missense 0.00002965●●●●●●
28. 128786556 c.1190A>G p.E397G missense 0.00002645●●●●●●
29. 128782113 c.937+8G>A splice site 0.00002554●●●●●●
30. 128781827 c.659G>A p.R220Q missense 0.00002551●●●●●●
31. 128782091 c.923T>G p.M308R missense 0.00002540●●●●●●
32. 128781893 c.725G>A p.R242Q missense 0.00002534●●●●●●
33. 128781221 c.53C>T p.T18I missense 0.00002475●●●●●●
34. 128781316 c.148C>T p.R50C missense 0.00002471●●●●●●
35. 128781323 c.155G>A p.R52H missense 0.00002471●●●●●●
36. 128781598 c.430A>G p.I144V missense 0.00002471●●●●●●
37. 128781442 c.274G>A p.V92I missense 0.00002471●●●●●●
38. 128781559 c.391G>A p.E131K missense 0.00002471●●●●●●
39. 128786552 c.1186G>A p.A396T missense 0.00001745●●●●●●
40. 128781842 c.674G>A p.R225H missense 0.00001707●●●●●●
41. 128781871 c.703C>T p.R235W missense 0.00001704●●●●●●
42. 128781826 c.658C>T p.R220W missense 0.00001701●●●●●●
43. 128781805 c.637G>A p.E213K missense 0.00001684●●●●●●
44. 128781160 c.-9A>G splice site 0.00001674●●●●●●
45. 128782021 c.853C>A p.P285T missense 0.00001672●●●●●●
46. 128781916 c.748A>T p.I250F missense 0.00001670●●●●●●
47. 128781784 c.616G>A p.A206T missense 0.00001664●●●●●●
48. 128782003 c.835G>A p.E279K missense 0.00001658●●●●●●
49. 128781943 c.775G>A p.V259M missense 0.00001655●●●●●●
50. 128781956 c.788C>T p.T263M missense 0.00001654●●●●●●
51. 128781257 c.89G>A p.R30H missense 0.00001649●●●●●●
52. 128781313 c.145C>A p.P49T missense 0.00001648●●●●●●
53. 128781583 c.415G>A p.A139T missense 0.00001647●●●●●●
54. 128781643 c.475G>C p.E159Q missense 0.00001647●●●●●●
55. 128781644 c.476A>G p.E159G missense 0.00001647●●●●●●
56. 128786360 c.994C>T p.R332X nonsense 0.00001647●●●●●●
57. 128786569 c.1203T>G p.N401K missense 0.00000919●●●●●●
58. 128786550 c.1184A>C p.D395A missense 0.00000868●●●●●●
59. 128786546 c.1180C>A p.L394M missense 0.00000863●●●●●●
60. 128786544 c.1178G>A p.G393E missense 0.00000860●●●●●●
61. 128781859 c.691G>C p.E231Q missense 0.00000853●●●●●●
62. 128786535 c.1169C>T p.A390V missense 0.00000853●●●●●●
63. 128781841 c.673C>T p.R225C missense 0.00000853●●●●●●
64. 128781833 c.665G>A p.G222D missense 0.00000852●●●●●●
65. 128781835 c.667G>A p.D223N missense 0.00000852●●●●●●
66. 128782108 c.937+3A>G splice site 0.00000850●●●●●●
67. 128786532 c.1166G>A p.C389Y missense 0.00000850●●●●●●
68. 128782108 c.937+3delA splice site 0.00000850●●●●●●
69. 128786529 c.1163G>A p.G388D missense 0.00000849●●●●●●
70. 128781822 c.654G>A p.M218I missense 0.00000848●●●●●●
71. 128786528 c.1162G>T p.G388C missense 0.00000848●●●●●●
72. 128786520 c.1154T>G p.L385R missense 0.00000844●●●●●●
73. 128782064 c.896T>C p.F299S missense 0.00000842●●●●●●
74. 128782061 c.893A>C p.E298A missense 0.00000841●●●●●●
75. 0 c.-10-5C>G splice site 0.00000841●●●●●●
76. 128781800 c.632G>A p.R211Q missense 0.00000840●●●●●●
77. 128781904 c.736G>A p.E246K missense 0.00000839●●●●●●
78. 128781159 c.-10C>G splice site 0.00000838●●●●●●
79. 128781169 c.1A>G p.Met1? missense 0.00000834●●●●●●
80. 128786508 c.1142C>A p.P381H missense 0.00000834●●●●●●
81. 128781927 c.759C>A p.N253K missense 0.00000830●●●●●●
82. 128781932 c.764C>T p.T255I missense 0.00000829●●●●●●
83. 128781961 c.793G>A p.D265N missense 0.00000827●●●●●●
84. 128781967 c.799C>T p.R267C missense 0.00000827●●●●●●
85. 128781947 c.779G>A p.G260D missense 0.00000827●●●●●●
86. 128786487 c.1121G>C p.G374A missense 0.00000825●●●●●●
87. 128781218 c.50T>A p.V17D missense 0.00000825●●●●●●
88. 128781215 c.47G>A p.G16E missense 0.00000825●●●●●●
89. 128781223 c.55C>T p.P19S missense 0.00000825●●●●●●
90. 128786487 c.1121G>A p.G374D missense 0.00000825●●●●●●
91. 128781237 c.69G>C p.K23N missense 0.00000825●●●●●●
92. 128786482 c.1116G>C p.R372S missense 0.00000825●●●●●●
93. 128786487 c.1121G>T p.G374V missense 0.00000825●●●●●●
94. 128781211 c.43A>C p.I15L missense 0.00000825●●●●●●
95. 128786427 c.1061C>T p.T354I missense 0.00000824●●●●●●
96. 128781632 c.464G>A p.R155Q missense 0.00000824●●●●●●
97. 128781544 c.376T>C p.W126R missense 0.00000824●●●●●●
98. 128781543 c.375G>C p.E125D missense 0.00000824●●●●●●
99. 128786309 c.943A>G p.T315A missense 0.00000824●●●●●●
100. 128781439 c.271C>T p.L91F missense 0.00000824●●●●●●
101. 128781416 c.248A>C p.D83A missense 0.00000824●●●●●●
102. 128781264 c.96T>A p.Y32X nonsense 0.00000824●●●●●●
103. 128781695 c.527delC p.Ile177SerfsTer76 frameshift 0.00000824●●●●●●
104. 128781680 c.512A>C p.Q171P missense 0.00000824●●●●●●
105. 128781649 c.481T>C p.C161R missense 0.00000824●●●●●●
106. 128781675 c.507G>T p.L169F missense 0.00000824●●●●●●
107. 128786361 c.995G>A p.R332Q missense 0.00000824●●●●●●
108. 128781511 c.343C>T p.R115W missense 0.00000824●●●●●●
109. 128786411 c.1045A>G p.N349D missense 0.00000824●●●●●●
110. 128781364 c.196A>G p.N66D missense 0.00000824●●●●●●
111. 128781641 c.473C>G p.T158R missense 0.00000824●●●●●●
112. 128786300 c.938-4C>T splice site 0.00000824●●●●●●
113. 128781722 c.554G>T p.C185F missense 0.00000824●●●●●●
114. 128781284 c.116G>A p.R39H missense 0.00000824●●●●●●
115. 128786436 c.1070C>T p.T357I missense 0.00000824●●●●●●
116. 128781632 c.464G>T p.R155L missense 0.00000824●●●●●●
117. 128786321 c.955C>T p.R319W missense 0.00000824●●●●●●
118. 128781427 c.259C>T p.R87C missense 0.00000824●●●●●●
119. 128781317 c.149G>C p.R50P missense 0.00000824●●●●●●
120. 128781271 c.103A>G p.I35V missense 0.00000824●●●●●●
121. 128781700 c.532G>A p.V178I missense 0.00000824●●●●●●
122. 128781659 c.491G>C p.G164A missense 0.00000824●●●●●●
123. 128786375 c.1009C>T p.L337F missense 0.00000824●●●●●●
124. 128781528 c.360T>G p.H120Q missense 0.00000824●●●●●●
125. 128786413 c.1047C>G p.N349K missense 0.00000824●●●●●●
126. 128781382 c.214C>T p.R72W missense 0.00000824●●●●●●
127. 128786301 c.938-3C>T splice site 0.00000824●●●●●●
128. 128781340 c.172G>A p.G58S missense 0.00000824●●●●●●
129. 128781512 c.344G>A p.R115Q missense 0.00000824●●●●●●
130. 128786340 c.974C>T p.T325I missense 0.00000824●●●●●●
131. 128781467 c.299C>A p.T100N missense 0.00000824●●●●●●
132. 128781709 c.541T>A p.F181I missense 0.00000824●●●●●●
133. 128781670 c.502C>T p.L168F missense 0.00000824●●●●●●
134. 128781358 c.190C>T p.H64Y missense 0.00000824●●●●●●
135. 128786415 c.1049C>T p.T350I missense 0.00000824●●●●●●
136. 128781611 c.443C>A p.T148K missense 0.00000824●●●●●●
137. 128781535 c.367G>A p.D123N missense 0.00000824●●●●●●
138. 128781403 c.235A>G p.T79A missense 0.00000824●●●●●●
139. 128781428 c.260G>A p.R87H missense 0.00000824●●●●●●
140. 128786305 c.939C>T splice site 0.00000824●●●●●●
141. 128781500 c.332_333insA p.Ala112CysfsTer6 frameshift 0.00000824●●●●●●
142. 128781510 c.342C>G p.I114M missense 0.00000824●●●●●●
143. 128781530 c.362T>C p.V121A missense 0.00000824●●●●●●
144. 128786388 c.1022A>G p.K341R missense 0.00000824●●●●●●
145. 128781482 c.314G>C p.G105A missense 0.00000824●●●●●●
146. 128781343 c.175A>C p.K59Q missense 0.00000824●●●●●●
147. 128786299 c.938-5C>T splice site 0.00000824●●●●●●
148. 128781714 c.546G>T p.M182I 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.