ADORA3 missense variants in ExAC

ADORA3 gene summary
ADORA3 variants in

The table below lists the ADORA3 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. 112042787 c.742A>C p.I248L missense 0.09470047●●●●●●
2. 112042732 c.797T>A p.M266K missense 0.01780386●●●●●●
3. 112045709 c.268C>G p.L90V missense 0.00413298●●●●●●
4. 112042778 c.751T>G p.C251G missense 0.00052760●●●●●●
5. 112042946 c.583G>A p.A195T missense 0.00046142●●●●●●
6. 112043018 c.511G>A p.V171I missense 0.00042009●●●●●●
7. 112042574 c.955T>C p.X319Q missense 0.00022381●●●●●●
8. 112045886 c.91G>A p.V31M missense 0.00020025●●●●●●
9. 112045871 c.106G>A p.V36M missense 0.00013292●●●●●●
10. 112045960 c.17C>G p.T6S missense 0.00012817●●●●●●
11. 112042610 c.919G>T p.D307Y missense 0.00010713●●●●●●
12. 112042858 c.671G>A p.R224Q missense 0.00009071●●●●●●
13. 112042780 c.749A>G p.N250S missense 0.00009068●●●●●●
14. 112042615 c.914C>T p.P305L missense 0.00009063●●●●●●
15. 112045912 c.65T>C p.I22T missense 0.00008480●●●●●●
16. 112045654 c.323G>A p.R108Q missense 0.00006650●●●●●●
17. 112045747 c.230C>G p.T77R missense 0.00005785●●●●●●
18. 112042846 c.683C>T p.T228M missense 0.00005773●●●●●●
19. 112042729 c.800G>A p.G267D missense 0.00004946●●●●●●
20. 112042727 c.802A>G p.I268V missense 0.00004945●●●●●●
21. 112042958 c.571G>A p.V191I missense 0.00004944●●●●●●
22. 112043144 c.385C>G p.L129V missense 0.00004128●●●●●●
23. 112042979 c.550A>C p.T184P missense 0.00004119●●●●●●
24. 112045636 c.341T>C p.L114P missense 0.00003353●●●●●●
25. 112045646 c.331C>T p.R111W missense 0.00003338●●●●●●
26. 112042859 c.670C>T p.R224W missense 0.00003299●●●●●●
27. 112043092 c.437T>A p.M146K missense 0.00003295●●●●●●
28. 112045691 c.286G>A p.A96T missense 0.00002481●●●●●●
29. 112042583 c.946A>T p.N316Y missense 0.00002478●●●●●●
30. 112042915 c.614G>A p.R205Q missense 0.00002473●●●●●●
31. 112042951 c.578T>C p.M193T missense 0.00002472●●●●●●
32. 112042688 c.841G>A p.V281I missense 0.00002472●●●●●●
33. 112045631 c.346G>A p.V116I missense 0.00001687●●●●●●
34. 112045886 c.91G>T p.V31L missense 0.00001669●●●●●●
35. 112043169 c.360G>C p.R120S missense 0.00001665●●●●●●
36. 112043165 c.364A>G p.T122A missense 0.00001662●●●●●●
37. 112045690 c.287C>T p.A96V missense 0.00001654●●●●●●
38. 112045825 c.152T>G p.I51S missense 0.00001653●●●●●●
39. 112045747 c.230C>T p.T77I missense 0.00001653●●●●●●
40. 112045726 c.251T>A p.L84H missense 0.00001653●●●●●●
41. 112045786 c.191T>C p.L64P missense 0.00001651●●●●●●
42. 112042868 c.661T>C p.F221L missense 0.00001649●●●●●●
43. 112042882 c.647A>G p.K216R missense 0.00001649●●●●●●
44. 112042916 c.613C>T p.R205W missense 0.00001649●●●●●●
45. 112042834 c.695T>C p.L232S missense 0.00001649●●●●●●
46. 112042652 c.877T>C p.Y293H missense 0.00001648●●●●●●
47. 112042664 c.865T>C p.F289L missense 0.00001648●●●●●●
48. 112042649 c.880C>T p.L294F missense 0.00001648●●●●●●
49. 112042988 c.541A>G p.S181G missense 0.00001648●●●●●●
50. 112042989 c.540C>A p.F180L missense 0.00001647●●●●●●
51. 112043091 c.438G>A p.M146I missense 0.00001647●●●●●●
52. 112043020 c.509C>T p.S170F missense 0.00001647●●●●●●
53. 112045972 c.5C>T p.P2L missense 0.00001102●●●●●●
54. 112045964 c.13A>T p.S5C missense 0.00001018●●●●●●
55. 112045962 c.15C>A p.S5R missense 0.00001010●●●●●●
56. 112045957 c.20C>T p.A7V missense 0.00000966●●●●●●
57. 112045955 c.22C>G p.L8V missense 0.00000960●●●●●●
58. 112045949 c.28T>A p.L10M missense 0.00000929●●●●●●
59. 112045925 c.52A>G p.M18V missense 0.00000862●●●●●●
60. 112045898 c.79A>C p.I27L missense 0.00000840●●●●●●
61. 112045645 c.332G>A p.R111Q missense 0.00000835●●●●●●
62. 112045867 c.110T>G p.V37G missense 0.00000830●●●●●●
63. 112045664 c.313G>A p.A105T missense 0.00000829●●●●●●
64. 112045852 c.125G>A p.S42N missense 0.00000828●●●●●●
65. 112045672 c.305T>G p.L102R missense 0.00000828●●●●●●
66. 112045681 c.296T>G p.M99R missense 0.00000827●●●●●●
67. 112045843 c.134C>A p.T45N missense 0.00000827●●●●●●
68. 112045690 c.287C>G p.A96G missense 0.00000827●●●●●●
69. 112045833 c.144C>G p.F48L missense 0.00000827●●●●●●
70. 112043137 c.392T>C p.L131P missense 0.00000827●●●●●●
71. 112045837 c.140C>A p.T47N missense 0.00000827●●●●●●
72. 112045832 c.145T>G p.Y49D missense 0.00000827●●●●●●
73. 112042584 c.945G>T p.K315N missense 0.00000826●●●●●●
74. 112045781 c.196A>C p.M66L missense 0.00000826●●●●●●
75. 112045771 c.206C>A p.A69D missense 0.00000826●●●●●●
76. 112045795 c.182T>C p.V61A missense 0.00000826●●●●●●
77. 112045777 c.200C>A p.P67H missense 0.00000826●●●●●●
78. 112045819 c.158C>G p.S53C missense 0.00000826●●●●●●
79. 112042885 c.644C>G p.S215C missense 0.00000825●●●●●●
80. 112042865 c.664T>C p.Y222H missense 0.00000825●●●●●●
81. 112042588 c.941A>G p.E314G missense 0.00000825●●●●●●
82. 112043132 c.397C>T p.L133F missense 0.00000825●●●●●●
83. 112042798 c.731T>A p.L244Q missense 0.00000825●●●●●●
84. 112042687 c.842T>G p.V281G missense 0.00000824●●●●●●
85. 112043068 c.461C>T p.T154I missense 0.00000824●●●●●●
86. 112042973 c.556A>G p.I186V missense 0.00000824●●●●●●
87. 112042760 c.769G>A p.G257S missense 0.00000824●●●●●●
88. 112042643 c.886A>G p.I296V missense 0.00000824●●●●●●
89. 112043014 c.515T>C p.M172T missense 0.00000824●●●●●●
90. 112042598 c.931A>G p.T311A missense 0.00000824●●●●●●
91. 112042837 c.692C>T p.S231F missense 0.00000824●●●●●●
92. 112042993 c.536A>C p.Y179S missense 0.00000824●●●●●●
93. 112042823 c.706C>A p.L236I missense 0.00000824●●●●●●
94. 112042711 c.818C>T p.A273V missense 0.00000824●●●●●●
95. 112042621 c.908G>T p.C303F missense 0.00000824●●●●●●
96. 112043002 c.527A>G p.Y176C missense 0.00000824●●●●●●
97. 112042939 c.590A>T p.Y197F missense 0.00000824●●●●●●
98. 112042894 c.635T>C p.L212S missense 0.00000824●●●●●●
99. 112042769 c.760T>C p.Y254H missense 0.00000824●●●●●●
100. 112042960 c.569T>C p.L190P missense 0.00000824●●●●●●
101. 112043000 c.529A>G p.M177V missense 0.00000824●●●●●●
102. 112042754 c.775G>C p.V259L missense 0.00000824●●●●●●
103. 112042997 c.532G>A p.V178I missense 0.00000824●●●●●●
104. 112042684 c.845A>G p.Y282C missense 0.00000824●●●●●●
105. 112042631 c.898T>A p.C300S missense 0.00000824●●●●●●
106. 112042597 c.932C>A p.T311K missense 0.00000824●●●●●●
107. 112043008 c.521T>C p.M174T missense 0.00000824●●●●●●
108. 112042940 c.589T>C p.Y197H missense 0.00000824●●●●●●
109. 112042833 c.696G>T p.L232F missense 0.00000824●●●●●●
110. 112042784 c.745A>G p.I249V missense 0.00000824●●●●●●
111. 112042651 c.878A>G p.Y293C missense 0.00000824●●●●●●
112. 112043092 c.437T>C p.M146T missense 0.00000824●●●●●●
113. 112043039 c.490C>T p.L164F missense 0.00000824●●●●●●
114. 112042963 c.566C>A p.P189H missense 0.00000824●●●●●●
115. 112042642 c.887T>A p.I296N missense 0.00000824●●●●●●
116. 112042603 c.926T>C p.L309S missense 0.00000824●●●●●●
117. 112043013 c.516G>A p.M172I missense 0.00000824●●●●●●
118. 112042945 c.584C>A p.A195D 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.