ADORA3 variants in ExAC

ADORA3 gene summary
ADORA3 variants in

The table below lists the ADORA3 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. 112045622 c.350+5C>A splice site 0.00022126●●●●●●
9. 112045886 c.91G>A p.V31M missense 0.00020025●●●●●●
10. 112045871 c.106G>A p.V36M missense 0.00013292●●●●●●
11. 112045960 c.17C>G p.T6S missense 0.00012817●●●●●●
12. 112045734 c.243C>A p.Y81X nonsense 0.00012398●●●●●●
13. 112042610 c.919G>T p.D307Y missense 0.00010713●●●●●●
14. 112042858 c.671G>A p.R224Q missense 0.00009071●●●●●●
15. 112042780 c.749A>G p.N250S missense 0.00009068●●●●●●
16. 112042615 c.914C>T p.P305L missense 0.00009063●●●●●●
17. 112045912 c.65T>C p.I22T missense 0.00008480●●●●●●
18. 112045654 c.323G>A p.R108Q missense 0.00006650●●●●●●
19. 112045618 c.350+9C>T splice site 0.00005999●●●●●●
20. 112045747 c.230C>G p.T77R missense 0.00005785●●●●●●
21. 112042846 c.683C>T p.T228M missense 0.00005773●●●●●●
22. 112045622 c.350+5C>T splice site 0.00005106●●●●●●
23. 112042729 c.800G>A p.G267D missense 0.00004946●●●●●●
24. 112042727 c.802A>G p.I268V missense 0.00004945●●●●●●
25. 112042958 c.571G>A p.V191I missense 0.00004944●●●●●●
26. 112043144 c.385C>G p.L129V missense 0.00004128●●●●●●
27. 112042979 c.550A>C p.T184P missense 0.00004119●●●●●●
28. 112045636 c.341T>C p.L114P missense 0.00003353●●●●●●
29. 112045646 c.331C>T p.R111W missense 0.00003338●●●●●●
30. 112045834 c.143_145delTCT p.Phe48del inframe 0.00003306●●●●●●
31. 112042859 c.670C>T p.R224W missense 0.00003299●●●●●●
32. 112043092 c.437T>A p.M146K missense 0.00003295●●●●●●
33. 112045655 c.322C>T p.R108X nonsense 0.00002492●●●●●●
34. 112045691 c.286G>A p.A96T missense 0.00002481●●●●●●
35. 112042583 c.946A>T p.N316Y missense 0.00002478●●●●●●
36. 112042915 c.614G>A p.R205Q missense 0.00002473●●●●●●
37. 112042688 c.841G>A p.V281I missense 0.00002472●●●●●●
38. 112042951 c.578T>C p.M193T missense 0.00002472●●●●●●
39. 112045631 c.346G>A p.V116I missense 0.00001687●●●●●●
40. 112045886 c.91G>T p.V31L missense 0.00001669●●●●●●
41. 112043169 c.360G>C p.R120S missense 0.00001665●●●●●●
42. 112043165 c.364A>G p.T122A missense 0.00001662●●●●●●
43. 112045690 c.287C>T p.A96V missense 0.00001654●●●●●●
44. 112045747 c.230C>T p.T77I missense 0.00001653●●●●●●
45. 112045825 c.152T>G p.I51S missense 0.00001653●●●●●●
46. 112045726 c.251T>A p.L84H missense 0.00001653●●●●●●
47. 112045786 c.191T>C p.L64P missense 0.00001651●●●●●●
48. 112042868 c.661T>C p.F221L missense 0.00001649●●●●●●
49. 112042882 c.647A>G p.K216R missense 0.00001649●●●●●●
50. 112042834 c.695T>C p.L232S missense 0.00001649●●●●●●
51. 112042916 c.613C>T p.R205W missense 0.00001649●●●●●●
52. 112042988 c.541A>G p.S181G missense 0.00001648●●●●●●
53. 112042652 c.877T>C p.Y293H missense 0.00001648●●●●●●
54. 112042664 c.865T>C p.F289L missense 0.00001648●●●●●●
55. 112042649 c.880C>T p.L294F missense 0.00001648●●●●●●
56. 112043020 c.509C>T p.S170F missense 0.00001647●●●●●●
57. 112043091 c.438G>A p.M146I missense 0.00001647●●●●●●
58. 112042989 c.540C>A p.F180L missense 0.00001647●●●●●●
59. 112045972 c.5C>T p.P2L missense 0.00001102●●●●●●
60. 112045964 c.13A>T p.S5C missense 0.00001018●●●●●●
61. 112045962 c.15C>A p.S5R missense 0.00001010●●●●●●
62. 112045957 c.20C>T p.A7V missense 0.00000966●●●●●●
63. 112045955 c.22C>G p.L8V missense 0.00000960●●●●●●
64. 112045949 c.28T>A p.L10M missense 0.00000929●●●●●●
65. 112045925 c.52A>G p.M18V missense 0.00000862●●●●●●
66. 112045898 c.79A>C p.I27L missense 0.00000840●●●●●●
67. 112043182 c.351-4A>G splice site 0.00000838●●●●●●
68. 112045645 c.332G>A p.R111Q missense 0.00000835●●●●●●
69. 112045867 c.110T>G p.V37G missense 0.00000830●●●●●●
70. 112045664 c.313G>A p.A105T missense 0.00000829●●●●●●
71. 112045852 c.125G>A p.S42N missense 0.00000828●●●●●●
72. 112045672 c.305T>G p.L102R missense 0.00000828●●●●●●
73. 112045843 c.134C>A p.T45N missense 0.00000827●●●●●●
74. 112045695 c.282_283delCC p.His95ArgfsTer104 frameshift 0.00000827●●●●●●
75. 112045832 c.145T>G p.Y49D missense 0.00000827●●●●●●
76. 112043137 c.392T>C p.L131P missense 0.00000827●●●●●●
77. 112045833 c.144C>G p.F48L missense 0.00000827●●●●●●
78. 112045690 c.287C>G p.A96G missense 0.00000827●●●●●●
79. 112045837 c.140C>A p.T47N missense 0.00000827●●●●●●
80. 112045681 c.296T>G p.M99R missense 0.00000827●●●●●●
81. 112043157 c.372_373delCA p.His124GlnfsTer75 frameshift 0.00000827●●●●●●
82. 112045771 c.206C>A p.A69D missense 0.00000826●●●●●●
83. 112045795 c.182T>C p.V61A missense 0.00000826●●●●●●
84. 112045777 c.200C>A p.P67H missense 0.00000826●●●●●●
85. 112042584 c.945G>T p.K315N missense 0.00000826●●●●●●
86. 112045819 c.158C>G p.S53C missense 0.00000826●●●●●●
87. 112045781 c.196A>C p.M66L missense 0.00000826●●●●●●
88. 112042865 c.664T>C p.Y222H missense 0.00000825●●●●●●
89. 112043132 c.397C>T p.L133F missense 0.00000825●●●●●●
90. 112042798 c.731T>A p.L244Q missense 0.00000825●●●●●●
91. 112042885 c.644C>G p.S215C missense 0.00000825●●●●●●
92. 112042588 c.941A>G p.E314G missense 0.00000825●●●●●●
93. 112042960 c.569T>C p.L190P missense 0.00000824●●●●●●
94. 112042894 c.635T>C p.L212S missense 0.00000824●●●●●●
95. 112042769 c.760T>C p.Y254H missense 0.00000824●●●●●●
96. 112042631 c.898T>A p.C300S missense 0.00000824●●●●●●
97. 112043008 c.521T>C p.M174T missense 0.00000824●●●●●●
98. 112042940 c.589T>C p.Y197H missense 0.00000824●●●●●●
99. 112042833 c.696G>T p.L232F missense 0.00000824●●●●●●
100. 112042997 c.532G>A p.V178I missense 0.00000824●●●●●●
101. 112042684 c.845A>G p.Y282C missense 0.00000824●●●●●●
102. 112042597 c.932C>A p.T311K missense 0.00000824●●●●●●
103. 112042784 c.745A>G p.I249V missense 0.00000824●●●●●●
104. 112042651 c.878A>G p.Y293C missense 0.00000824●●●●●●
105. 112042642 c.887T>A p.I296N missense 0.00000824●●●●●●
106. 112043031 c.498C>A p.C166X nonsense 0.00000824●●●●●●
107. 112043013 c.516G>A p.M172I missense 0.00000824●●●●●●
108. 112042945 c.584C>A p.A195D missense 0.00000824●●●●●●
109. 112042837 c.692C>T p.S231F missense 0.00000824●●●●●●
110. 112042963 c.566C>A p.P189H missense 0.00000824●●●●●●
111. 112042687 c.842T>G p.V281G missense 0.00000824●●●●●●
112. 112043092 c.437T>C p.M146T missense 0.00000824●●●●●●
113. 112042603 c.926T>C p.L309S missense 0.00000824●●●●●●
114. 112043006 c.523delG p.Asp175ThrfsTer36 frameshift 0.00000824●●●●●●
115. 112042598 c.931A>G p.T311A missense 0.00000824●●●●●●
116. 112042760 c.769G>A p.G257S missense 0.00000824●●●●●●
117. 112042643 c.886A>G p.I296V missense 0.00000824●●●●●●
118. 112043039 c.490C>T p.L164F missense 0.00000824●●●●●●
119. 112043014 c.515T>C p.M172T missense 0.00000824●●●●●●
120. 112042973 c.556A>G p.I186V missense 0.00000824●●●●●●
121. 112043000 c.529A>G p.M177V missense 0.00000824●●●●●●
122. 112042711 c.818C>T p.A273V missense 0.00000824●●●●●●
123. 112042621 c.908G>T p.C303F missense 0.00000824●●●●●●
124. 112043002 c.527A>G p.Y176C missense 0.00000824●●●●●●
125. 112042939 c.590A>T p.Y197F missense 0.00000824●●●●●●
126. 112042754 c.775G>C p.V259L missense 0.00000824●●●●●●
127. 112042823 c.706C>A p.L236I missense 0.00000824●●●●●●
128. 112042993 c.536A>C p.Y179S missense 0.00000824●●●●●●
129. 112043068 c.461C>T p.T154I 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.