ADRA2B missense variants in ExAC

ADRA2B gene summary
ADRA2B variants in

The table below lists the ADRA2B 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. 96781257 c.632G>C p.G211A missense 0.03617571●●●●●●
2. 96780763 c.1126G>A p.V376I missense 0.00218087●●●●●●
3. 96780825 c.1064G>A p.R355H missense 0.00058061●●●●●●
4. 96780555 c.1334C>T p.T445M missense 0.00055221●●●●●●
5. 96780955 c.934G>A p.V312M missense 0.00052921●●●●●●
6. 96780964 c.925C>T p.P309S missense 0.00033459●●●●●●
7. 96781576 c.313G>A p.A105T missense 0.00029179●●●●●●
8. 96780805 c.1084C>T p.R362W missense 0.00023157●●●●●●
9. 96781380 c.509C>T p.A170V missense 0.00021730●●●●●●
10. 96781102 c.787G>A p.E263K missense 0.00021053●●●●●●
11. 96780853 c.1036G>A p.V346M missense 0.00018813●●●●●●
12. 96781507 c.382C>A p.R128S missense 0.00017038●●●●●●
13. 96781713 c.176T>G p.I59S missense 0.00015393●●●●●●
14. 96780762 c.1127T>G p.V376G missense 0.00014706●●●●●●
15. 96781328 c.561C>G p.I187M missense 0.00013333●●●●●●
16. 96781687 c.202T>A p.F68I missense 0.00011069●●●●●●
17. 96780658 c.1231A>G p.I411V missense 0.00009339●●●●●●
18. 96781132 c.757A>G p.T253A missense 0.00008753●●●●●●
19. 96781759 c.130C>T p.R44C missense 0.00008750●●●●●●
20. 96780826 c.1063C>T p.R355C missense 0.00008667●●●●●●
21. 96780922 c.967C>A p.P323T missense 0.00008635●●●●●●
22. 96780819 c.1070G>A p.R357Q missense 0.00008376●●●●●●
23. 96781140 c.749C>T p.S250L missense 0.00006957●●●●●●
24. 96781411 c.478G>A p.G160R missense 0.00006727●●●●●●
25. 96780586 c.1303C>T p.R435W missense 0.00006074●●●●●●
26. 96780693 c.1196A>G p.K399R missense 0.00005986●●●●●●
27. 96780880 c.1009C>T p.R337C missense 0.00005908●●●●●●
28. 96780585 c.1304G>A p.R435Q missense 0.00005220●●●●●●
29. 96780750 c.1139G>A p.C380Y missense 0.00005193●●●●●●
30. 96781087 c.802C>T p.R268W missense 0.00004849●●●●●●
31. 96780555 c.1334C>A p.T445K missense 0.00004760●●●●●●
32. 96780571 c.1318C>T p.R440C missense 0.00004451●●●●●●
33. 96780595 c.1294C>T p.R432C missense 0.00004308●●●●●●
34. 96780598 c.1291C>T p.R431C missense 0.00004300●●●●●●
35. 96781549 c.340G>A p.V114M missense 0.00004286●●●●●●
36. 96781507 c.382C>T p.R128C missense 0.00004260●●●●●●
37. 96781203 c.686T>C p.L229S missense 0.00004248●●●●●●
38. 96780655 c.1234G>A p.G412S missense 0.00004246●●●●●●
39. 96781092 c.797G>A p.G266E missense 0.00003769●●●●●●
40. 96780651 c.1238A>G p.Y413C missense 0.00003393●●●●●●
41. 96781240 c.649G>A p.E217K missense 0.00003367●●●●●●
42. 96781376 c.513G>C p.W171C missense 0.00003341●●●●●●
43. 96781047 c.842G>T p.G281V missense 0.00003313●●●●●●
44. 96780942 c.947C>T p.P316L missense 0.00003238●●●●●●
45. 96781854 c.35C>A p.T12K missense 0.00003094●●●●●●
46. 96780879 c.1010G>A p.R337H missense 0.00002934●●●●●●
47. 96780921 c.968C>G p.P323R missense 0.00002887●●●●●●
48. 96780567 c.1322C>T p.P441L missense 0.00002705●●●●●●
49. 96781723 c.166G>A p.A56T missense 0.00002577●●●●●●
50. 96781537 c.352C>G p.L118V missense 0.00002566●●●●●●
51. 96781212 c.677G>T p.G226V missense 0.00002545●●●●●●
52. 96781413 c.476G>T p.R159L missense 0.00002523●●●●●●
53. 96781885 c.4G>A p.D2N missense 0.00002424●●●●●●
54. 96781020 c.869G>A p.G290E missense 0.00002213●●●●●●
55. 96780898 c.991C>T p.R331W missense 0.00002052●●●●●●
56. 96780897 c.992G>A p.R331Q missense 0.00002017●●●●●●
57. 96780897 c.992G>T p.R331L missense 0.00002017●●●●●●
58. 96780827 c.1062G>T p.W354C missense 0.00001947●●●●●●
59. 96781037 c.852G>C p.Q284H missense 0.00001908●●●●●●
60. 96780825 c.1064G>C p.R355P missense 0.00001904●●●●●●
61. 96780804 c.1085G>A p.R362Q missense 0.00001778●●●●●●
62. 96780796 c.1093C>T p.R365C missense 0.00001762●●●●●●
63. 96780789 c.1100C>T p.T367I missense 0.00001745●●●●●●
64. 96780745 c.1144T>C p.F382L missense 0.00001730●●●●●●
65. 96780592 c.1297G>A p.A433T missense 0.00001727●●●●●●
66. 96780724 c.1165A>C p.S389R missense 0.00001726●●●●●●
67. 96781158 c.731G>T p.R244I missense 0.00001723●●●●●●
68. 96781159 c.730A>G p.R244G missense 0.00001723●●●●●●
69. 96780705 c.1184C>T p.P395L missense 0.00001718●●●●●●
70. 96781182 c.707C>A p.A236D missense 0.00001709●●●●●●
71. 96780663 c.1226T>C p.F409S missense 0.00001700●●●●●●
72. 96781414 c.475C>T p.R159C missense 0.00001683●●●●●●
73. 96781399 c.490T>C p.C164R missense 0.00001677●●●●●●
74. 96781259 c.630G>C p.K210N missense 0.00001677●●●●●●
75. 96781260 c.629A>T p.K210M missense 0.00001677●●●●●●
76. 96781261 c.628A>G p.K210E missense 0.00001676●●●●●●
77. 96781308 c.581G>A p.R194H missense 0.00001668●●●●●●
78. 96781321 c.568C>T p.L190F missense 0.00001667●●●●●●
79. 96781060 c.829C>T p.L277F missense 0.00001375●●●●●●
80. 96781886 c.3G>A p.Met1? missense 0.00001228●●●●●●
81. 96781873 c.16C>A p.P6T missense 0.00001148●●●●●●
82. 96781866 c.23C>A p.S8Y missense 0.00001088●●●●●●
83. 96781866 c.23C>T p.S8F missense 0.00001088●●●●●●
84. 96780838 c.1051G>A p.G351R missense 0.00001016●●●●●●
85. 96781084 c.805G>T p.A269S missense 0.00000998●●●●●●
86. 96781837 c.52G>A p.A18T missense 0.00000978●●●●●●
87. 96781833 c.56T>A p.I19N missense 0.00000977●●●●●●
88. 96781828 c.61T>G p.F21V missense 0.00000963●●●●●●
89. 96780820 c.1069C>T p.R357W missense 0.00000934●●●●●●
90. 96781804 c.85G>T p.G29C missense 0.00000926●●●●●●
91. 96781797 c.92C>G p.A31G missense 0.00000915●●●●●●
92. 96781795 c.94C>G p.L32V missense 0.00000914●●●●●●
93. 96780570 c.1319G>A p.R440H missense 0.00000895●●●●●●
94. 96780807 c.1082C>G p.T361S missense 0.00000893●●●●●●
95. 96781765 c.124T>C p.S42P missense 0.00000879●●●●●●
96. 96780792 c.1097T>G p.F366C missense 0.00000875●●●●●●
97. 96781135 c.754T>A p.S252T missense 0.00000873●●●●●●
98. 96781755 c.134C>T p.A45V missense 0.00000870●●●●●●
99. 96780784 c.1105G>T p.V369L missense 0.00000869●●●●●●
100. 96781753 c.136C>G p.P46A missense 0.00000868●●●●●●
101. 96780742 c.1147C>G p.P383A missense 0.00000866●●●●●●
102. 96780768 c.1121T>G p.I374S missense 0.00000865●●●●●●
103. 96780768 c.1121T>C p.I374T missense 0.00000865●●●●●●
104. 96780592 c.1297G>C p.A433P missense 0.00000864●●●●●●
105. 96780594 c.1295G>A p.R432H missense 0.00000863●●●●●●
106. 96781631 c.258G>T p.E86D missense 0.00000862●●●●●●
107. 96781633 c.256G>A p.E86K missense 0.00000862●●●●●●
108. 96781739 c.150C>G p.F50L missense 0.00000861●●●●●●
109. 96780597 c.1292G>A p.R431H missense 0.00000861●●●●●●
110. 96781641 c.248C>T p.T83M missense 0.00000861●●●●●●
111. 96781627 c.262T>C p.Y88H missense 0.00000861●●●●●●
112. 96781647 c.242G>A p.R81Q missense 0.00000859●●●●●●
113. 96781647 c.242G>C p.R81P missense 0.00000859●●●●●●
114. 96780646 c.1243A>C p.N415H missense 0.00000859●●●●●●
115. 96781576 c.313G>T p.A105S missense 0.00000858●●●●●●
116. 96781716 c.173A>G p.D58G missense 0.00000858●●●●●●
117. 96781561 c.328C>T p.R110C missense 0.00000857●●●●●●
118. 96781560 c.329G>C p.R110P missense 0.00000857●●●●●●
119. 96780604 c.1285G>C p.D429H missense 0.00000857●●●●●●
120. 96781173 c.716C>T p.S239F missense 0.00000856●●●●●●
121. 96781557 c.332A>G p.Y111C missense 0.00000856●●●●●●
122. 96781542 c.347G>T p.R116L missense 0.00000856●●●●●●
123. 96781542 c.347G>A p.R116H missense 0.00000856●●●●●●
124. 96781555 c.334T>C p.W112R missense 0.00000856●●●●●●
125. 96780709 c.1180T>G p.C394G missense 0.00000856●●●●●●
126. 96780639 c.1250C>T p.S417L missense 0.00000854●●●●●●
127. 96781182 c.707C>T p.A236V missense 0.00000854●●●●●●
128. 96781527 c.362A>G p.N121S missense 0.00000854●●●●●●
129. 96781673 c.216C>A p.N72K missense 0.00000854●●●●●●
130. 96780631 c.1258C>T p.P420S missense 0.00000853●●●●●●
131. 96781512 c.377C>T p.P126L missense 0.00000853●●●●●●
132. 96781506 c.383G>C p.R128P missense 0.00000852●●●●●●
133. 96781201 c.688G>C p.A230P missense 0.00000850●●●●●●
134. 96781485 c.404C>T p.T135I missense 0.00000848●●●●●●
135. 96781217 c.672C>G p.D224E missense 0.00000848●●●●●●
136. 96781491 c.398T>A p.I133N missense 0.00000848●●●●●●
137. 96781219 c.670G>A p.D224N missense 0.00000848●●●●●●
138. 96781224 c.665G>A p.R222Q missense 0.00000846●●●●●●
139. 96781452 c.437C>A p.P146Q missense 0.00000846●●●●●●
140. 96781224 c.665G>C p.R222P missense 0.00000846●●●●●●
141. 96781221 c.668C>G p.P223R missense 0.00000846●●●●●●
142. 96781221 c.668C>T p.P223L missense 0.00000846●●●●●●
143. 96781432 c.457G>T p.D153Y missense 0.00000844●●●●●●
144. 96781229 c.660G>T p.Q220H missense 0.00000843●●●●●●
145. 96781426 c.463G>A p.G155S missense 0.00000843●●●●●●
146. 96781228 c.661C>T p.P221S missense 0.00000843●●●●●●
147. 96781240 c.649G>C p.E217Q missense 0.00000842●●●●●●
148. 96781254 c.635G>C p.G212A missense 0.00000841●●●●●●
149. 96781416 c.473C>T p.P158L missense 0.00000841●●●●●●
150. 96781254 c.635G>T p.G212V missense 0.00000841●●●●●●
151. 96781410 c.479G>A p.G160E missense 0.00000840●●●●●●
152. 96781257 c.632G>T p.G211V missense 0.00000839●●●●●●
153. 96781398 c.491G>A p.C164Y missense 0.00000838●●●●●●
154. 96781272 c.617G>A p.G206D missense 0.00000837●●●●●●
155. 96781275 c.614G>C p.R205T missense 0.00000837●●●●●●
156. 96781275 c.614G>T p.R205I missense 0.00000837●●●●●●
157. 96781280 c.609C>A p.N203K missense 0.00000836●●●●●●
158. 96781299 c.590T>A p.L197Q missense 0.00000835●●●●●●
159. 96781353 c.536G>T p.G179V missense 0.00000834●●●●●●
160. 96781354 c.535G>C p.G179R missense 0.00000834●●●●●●
161. 96781309 c.580C>A p.R194S missense 0.00000834●●●●●●
162. 96781357 c.532A>G p.I178V missense 0.00000834●●●●●●
163. 96781327 c.562A>C p.M188L missense 0.00000833●●●●●●
164. 96781333 c.556C>T p.L186F missense 0.00000833●●●●●●

* 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.