GJA1 missense variants in ExAC

GJA1 gene summary
GJA1 variants in

The table below lists the GJA1 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. 121768751 c.758C>T p.A253V missense 0.00784159●●●●●●
2. 121768717 c.724G>A p.G242R missense 0.00071658●●●●●●
3. 121769078 c.1085G>A p.R362Q missense 0.00025130●●●●●●
4. 121769120 c.1127G>A p.R376Q missense 0.00018562●●●●●●
5. 121769032 c.1039C>A p.L347I missense 0.00012434●●●●●●
6. 121768699 c.706G>A p.V236I missense 0.00010708●●●●●●
7. 121768757 c.764G>A p.S255N missense 0.00005766●●●●●●
8. 121768807 c.814T>C p.S272P missense 0.00004943●●●●●●
9. 121769125 c.1132G>A p.D378N missense 0.00004225●●●●●●
10. 121768739 c.746C>T p.A249V missense 0.00004118●●●●●●
11. 121768888 c.895C>T p.R299C missense 0.00003295●●●●●●
12. 121768898 c.905A>G p.N302S missense 0.00003295●●●●●●
13. 121768501 c.508T>G p.L170V missense 0.00003295●●●●●●
14. 121768711 c.718G>A p.V240I missense 0.00002471●●●●●●
15. 121768819 c.826G>A p.A276T missense 0.00002471●●●●●●
16. 121768712 c.719T>A p.V240D missense 0.00002471●●●●●●
17. 121768777 c.784T>C p.S262P missense 0.00002471●●●●●●
18. 121768834 c.841A>G p.M281V missense 0.00002471●●●●●●
19. 121768861 c.868A>G p.T290A missense 0.00002471●●●●●●
20. 121768991 c.998A>G p.Q333R missense 0.00001650●●●●●●
21. 121768984 c.991C>T p.H331Y missense 0.00001649●●●●●●
22. 121768964 c.971G>C p.G324A missense 0.00001649●●●●●●
23. 121768892 c.899A>G p.N300S missense 0.00001648●●●●●●
24. 121768220 c.227G>A p.R76H missense 0.00001648●●●●●●
25. 121768476 c.483C>G p.F161L missense 0.00001647●●●●●●
26. 121768729 c.736C>A p.P246T missense 0.00001647●●●●●●
27. 121768760 c.767C>T p.P256L missense 0.00001647●●●●●●
28. 121768732 c.739T>C p.Y247H missense 0.00001647●●●●●●
29. 121768853 c.860A>G p.K287R missense 0.00001647●●●●●●
30. 121768459 c.466A>G p.I156V missense 0.00001647●●●●●●
31. 121768741 c.748A>G p.T250A missense 0.00001647●●●●●●
32. 121768298 c.305A>T p.K102M missense 0.00001647●●●●●●
33. 121769123 c.1130C>T p.P377L missense 0.00000845●●●●●●
34. 121769122 c.1129C>T p.P377S missense 0.00000845●●●●●●
35. 121769051 c.1058T>C p.L353S missense 0.00000841●●●●●●
36. 121769056 c.1063C>G p.P355A missense 0.00000840●●●●●●
37. 121769105 c.1112C>T p.A371V missense 0.00000840●●●●●●
38. 121769102 c.1109G>A p.R370H missense 0.00000839●●●●●●
39. 121769086 c.1093A>G p.S365G missense 0.00000838●●●●●●
40. 121769068 c.1075G>A p.V359M missense 0.00000837●●●●●●
41. 121769069 c.1076T>A p.V359E missense 0.00000837●●●●●●
42. 121769072 c.1079A>G p.D360G missense 0.00000837●●●●●●
43. 121769065 c.1072A>G p.I358V missense 0.00000837●●●●●●
44. 121769024 c.1031C>G p.S344C missense 0.00000828●●●●●●
45. 121769008 c.1015G>A p.D339N missense 0.00000826●●●●●●
46. 121768975 c.982T>C p.S328P missense 0.00000825●●●●●●
47. 121768970 c.977C>T p.T326I missense 0.00000825●●●●●●
48. 121768982 c.989C>G p.S330C missense 0.00000825●●●●●●
49. 121768984 c.991C>A p.H331N missense 0.00000825●●●●●●
50. 121768949 c.956G>A p.R319Q missense 0.00000824●●●●●●
51. 121768562 c.569A>T p.D190V missense 0.00000824●●●●●●
52. 121768784 c.791A>G p.K264R missense 0.00000824●●●●●●
53. 121768576 c.583C>G p.Q195E missense 0.00000824●●●●●●
54. 121768745 c.752G>A p.S251N missense 0.00000824●●●●●●
55. 121768974 c.981C>G p.I327M missense 0.00000824●●●●●●
56. 121768312 c.319A>C p.N107H missense 0.00000824●●●●●●
57. 121768747 c.754G>A p.G252S missense 0.00000824●●●●●●
58. 121768877 c.884A>G p.N295S missense 0.00000824●●●●●●
59. 121768597 c.604C>T p.R202C missense 0.00000824●●●●●●
60. 121768514 c.521G>T p.W174L missense 0.00000824●●●●●●
61. 121768758 c.765C>A p.S255R missense 0.00000824●●●●●●
62. 121768130 c.137G>C p.G46A missense 0.00000824●●●●●●
63. 121768889 c.896G>T p.R299L missense 0.00000824●●●●●●
64. 121768961 c.968C>T p.A323V missense 0.00000824●●●●●●
65. 121768591 c.598C>G p.L200V missense 0.00000824●●●●●●
66. 121768750 c.757G>A p.A253T missense 0.00000824●●●●●●
67. 121768358 c.365A>T p.N122I missense 0.00000824●●●●●●
68. 121768667 c.674T>C p.I225T missense 0.00000824●●●●●●
69. 121768339 c.346G>T p.A116S missense 0.00000824●●●●●●
70. 121768914 c.921G>C p.E307D missense 0.00000824●●●●●●
71. 121768369 c.376C>A p.H126N missense 0.00000824●●●●●●
72. 121768888 c.895C>A p.R299S missense 0.00000824●●●●●●
73. 121768773 c.780T>G p.C260W missense 0.00000824●●●●●●
74. 121768521 c.528C>G p.I176M missense 0.00000824●●●●●●
75. 121768736 c.743A>G p.H248R missense 0.00000824●●●●●●
76. 121768520 c.527T>C p.I176T missense 0.00000824●●●●●●
77. 121768140 c.147G>C p.Q49H missense 0.00000824●●●●●●
78. 121768624 c.631A>G p.I211V missense 0.00000824●●●●●●
79. 121768358 c.365A>G p.N122S missense 0.00000824●●●●●●
80. 121768725 c.732C>A p.S244R missense 0.00000824●●●●●●
81. 121768343 c.350A>G p.Q117R missense 0.00000824●●●●●●
82. 121768916 c.923A>G p.Q308R missense 0.00000824●●●●●●
83. 121768952 c.959T>G p.M320R missense 0.00000824●●●●●●
84. 121768778 c.785C>G p.S262C missense 0.00000824●●●●●●
85. 121768945 c.952A>C p.N318H missense 0.00000824●●●●●●
86. 121768556 c.563A>G p.K188R missense 0.00000824●●●●●●
87. 121768705 c.712G>T p.D238Y missense 0.00000824●●●●●●
88. 121768895 c.902A>G p.Y301C missense 0.00000824●●●●●●
89. 121768561 c.568G>C p.D190H missense 0.00000824●●●●●●
90. 121768295 c.302G>A p.R101Q 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.