ADRA2B variants in ExAC

ADRA2B gene summary
ADRA2B variants in

The table below lists the ADRA2B 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. 96780995 c.894_902dupAGAGGAGGA p.Glu298_Glu300dup inframe 0.69821205●●●●●●
2. 96781257 c.632G>C p.G211A missense 0.03617571●●●●●●
3. 96780987 c.902_903insAGAGGA p.Glu299_Glu300dup inframe 0.00457967●●●●●●
4. 96780763 c.1126G>A p.V376I missense 0.00218087●●●●●●
5. 96780825 c.1064G>A p.R355H missense 0.00058061●●●●●●
6. 96780555 c.1334C>T p.T445M missense 0.00055221●●●●●●
7. 96780955 c.934G>A p.V312M missense 0.00052921●●●●●●
8. 96780964 c.925C>T p.P309S missense 0.00033459●●●●●●
9. 96781576 c.313G>A p.A105T missense 0.00029179●●●●●●
10. 96780805 c.1084C>T p.R362W missense 0.00023157●●●●●●
11. 96781380 c.509C>T p.A170V missense 0.00021730●●●●●●
12. 96781102 c.787G>A p.E263K missense 0.00021053●●●●●●
13. 96780853 c.1036G>A p.V346M missense 0.00018813●●●●●●
14. 96781507 c.382C>A p.R128S missense 0.00017038●●●●●●
15. 96781713 c.176T>G p.I59S missense 0.00015393●●●●●●
16. 96780762 c.1127T>G p.V376G missense 0.00014706●●●●●●
17. 96781328 c.561C>G p.I187M missense 0.00013333●●●●●●
18. 96780999 c.890_891delCT p.Ala297GlyfsTer11 frameshift 0.00011239●●●●●●
19. 96781596 c.293C>A p.S98X nonsense 0.00011169●●●●●●
20. 96781687 c.202T>A p.F68I missense 0.00011069●●●●●●
21. 96780658 c.1231A>G p.I411V missense 0.00009339●●●●●●
22. 96781132 c.757A>G p.T253A missense 0.00008753●●●●●●
23. 96781759 c.130C>T p.R44C missense 0.00008750●●●●●●
24. 96780826 c.1063C>T p.R355C missense 0.00008667●●●●●●
25. 96780922 c.967C>A p.P323T missense 0.00008635●●●●●●
26. 96780819 c.1070G>A p.R357Q missense 0.00008376●●●●●●
27. 96781004 c.885_888delTGAA p.Asp295GlufsTer54 frameshift 0.00008111●●●●●●
28. 96780547 c.1342dupT p.Ter448Leu frameshift 0.00007185●●●●●●
29. 96781140 c.749C>T p.S250L missense 0.00006957●●●●●●
30. 96781411 c.478G>A p.G160R missense 0.00006727●●●●●●
31. 96780586 c.1303C>T p.R435W missense 0.00006074●●●●●●
32. 96780693 c.1196A>G p.K399R missense 0.00005986●●●●●●
33. 96780880 c.1009C>T p.R337C missense 0.00005908●●●●●●
34. 96780585 c.1304G>A p.R435Q missense 0.00005220●●●●●●
35. 96780750 c.1139G>A p.C380Y missense 0.00005193●●●●●●
36. 96781087 c.802C>T p.R268W missense 0.00004849●●●●●●
37. 96780555 c.1334C>A p.T445K missense 0.00004760●●●●●●
38. 96780571 c.1318C>T p.R440C missense 0.00004451●●●●●●
39. 96780595 c.1294C>T p.R432C missense 0.00004308●●●●●●
40. 96780598 c.1291C>T p.R431C missense 0.00004300●●●●●●
41. 96781549 c.340G>A p.V114M missense 0.00004286●●●●●●
42. 96781507 c.382C>T p.R128C missense 0.00004260●●●●●●
43. 96781203 c.686T>C p.L229S missense 0.00004248●●●●●●
44. 96780655 c.1234G>A p.G412S missense 0.00004246●●●●●●
45. 96780823 c.1066C>T p.R356X nonsense 0.00003770●●●●●●
46. 96781092 c.797G>A p.G266E missense 0.00003769●●●●●●
47. 96780563 c.1326G>A p.W442X nonsense 0.00003663●●●●●●
48. 96780651 c.1238A>G p.Y413C missense 0.00003393●●●●●●
49. 96781240 c.649G>A p.E217K missense 0.00003367●●●●●●
50. 96781376 c.513G>C p.W171C missense 0.00003341●●●●●●
51. 96781047 c.842G>T p.G281V missense 0.00003313●●●●●●
52. 96780942 c.947C>T p.P316L missense 0.00003238●●●●●●
53. 96780987 c.902_903insAGAGGAGGAGGA p.Glu298_Glu301dup inframe 0.00003137●●●●●●
54. 96781854 c.35C>A p.T12K missense 0.00003094●●●●●●
55. 96780879 c.1010G>A p.R337H missense 0.00002934●●●●●●
56. 96780921 c.968C>G p.P323R missense 0.00002887●●●●●●
57. 96780567 c.1322C>T p.P441L missense 0.00002705●●●●●●
58. 96781723 c.166G>A p.A56T missense 0.00002577●●●●●●
59. 96781537 c.352C>G p.L118V missense 0.00002566●●●●●●
60. 96781212 c.677G>T p.G226V missense 0.00002545●●●●●●
61. 96781413 c.476G>T p.R159L missense 0.00002523●●●●●●
62. 96781885 c.4G>A p.D2N missense 0.00002424●●●●●●
63. 96781020 c.869G>A p.G290E missense 0.00002213●●●●●●
64. 96780898 c.991C>T p.R331W missense 0.00002052●●●●●●
65. 96780897 c.992G>A p.R331Q missense 0.00002017●●●●●●
66. 96780897 c.992G>T p.R331L missense 0.00002017●●●●●●
67. 96780827 c.1062G>T p.W354C missense 0.00001947●●●●●●
68. 96781037 c.852G>C p.Q284H missense 0.00001908●●●●●●
69. 96780825 c.1064G>C p.R355P missense 0.00001904●●●●●●
70. 96780804 c.1085G>A p.R362Q missense 0.00001778●●●●●●
71. 96780796 c.1093C>T p.R365C missense 0.00001762●●●●●●
72. 96780789 c.1100C>T p.T367I missense 0.00001745●●●●●●
73. 96780745 c.1144T>C p.F382L missense 0.00001730●●●●●●
74. 96780592 c.1297G>A p.A433T missense 0.00001727●●●●●●
75. 96780724 c.1165A>C p.S389R missense 0.00001726●●●●●●
76. 96781159 c.730A>G p.R244G missense 0.00001723●●●●●●
77. 96781158 c.731G>T p.R244I missense 0.00001723●●●●●●
78. 96781740 c.149_150insGTT p.Leu49dup inframe 0.00001721●●●●●●
79. 96780601 c.1288_1290delTTC p.Phe430del inframe 0.00001720●●●●●●
80. 96780705 c.1184C>T p.P395L missense 0.00001718●●●●●●
81. 96781182 c.707C>A p.A236D missense 0.00001709●●●●●●
82. 96780663 c.1226T>C p.F409S missense 0.00001700●●●●●●
83. 96781231 c.658C>T p.Q220X nonsense 0.00001686●●●●●●
84. 96781414 c.475C>T p.R159C missense 0.00001683●●●●●●
85. 96781259 c.630G>C p.K210N missense 0.00001677●●●●●●
86. 96781260 c.629A>T p.K210M missense 0.00001677●●●●●●
87. 96781399 c.490T>C p.C164R missense 0.00001677●●●●●●
88. 96781261 c.628A>G p.K210E missense 0.00001676●●●●●●
89. 96781267 c.622delA p.Arg208GlyfsTer142 frameshift 0.00001676●●●●●●
90. 96781308 c.581G>A p.R194H missense 0.00001668●●●●●●
91. 96781321 c.568C>T p.L190F missense 0.00001667●●●●●●
92. 96781060 c.829C>T p.L277F missense 0.00001375●●●●●●
93. 96781886 c.3G>A p.Met1? missense 0.00001228●●●●●●
94. 96781873 c.16C>A p.P6T missense 0.00001148●●●●●●
95. 96781866 c.23C>A p.S8Y missense 0.00001088●●●●●●
96. 96781866 c.23C>T p.S8F missense 0.00001088●●●●●●
97. 96780848 c.1041_1042insTA p.Ala348Ter frameshift 0.00001062●●●●●●
98. 96780547 c.1342T>C p.Ter448ArgextTer39 nonsense 0.00001017●●●●●●
99. 96780838 c.1051G>A p.G351R missense 0.00001016●●●●●●
100. 96781084 c.805G>T p.A269S missense 0.00000998●●●●●●
101. 96781837 c.52G>A p.A18T missense 0.00000978●●●●●●
102. 96781833 c.56T>A p.I19N missense 0.00000977●●●●●●
103. 96781828 c.61T>G p.F21V missense 0.00000963●●●●●●
104. 96780820 c.1069C>T p.R357W missense 0.00000934●●●●●●
105. 96781804 c.85G>T p.G29C missense 0.00000926●●●●●●
106. 96781797 c.92C>G p.A31G missense 0.00000915●●●●●●
107. 96781795 c.94C>G p.L32V missense 0.00000914●●●●●●
108. 96780570 c.1319G>A p.R440H missense 0.00000895●●●●●●
109. 96780807 c.1082C>G p.T361S missense 0.00000893●●●●●●
110. 96781123 c.766_768delAAG p.Lys256del inframe 0.00000887●●●●●●
111. 96781765 c.124T>C p.S42P missense 0.00000879●●●●●●
112. 96780792 c.1097T>G p.F366C missense 0.00000875●●●●●●
113. 96781135 c.754T>A p.S252T missense 0.00000873●●●●●●
114. 96780793 c.1096_1103delTTCACCTT p.Phe366ArgfsTer172 frameshift 0.00000870●●●●●●
115. 96781755 c.134C>T p.A45V missense 0.00000870●●●●●●
116. 96780784 c.1105G>T p.V369L missense 0.00000869●●●●●●
117. 96781753 c.136C>G p.P46A missense 0.00000868●●●●●●
118. 96780756 c.1133delT p.Val378GlyfsTer41 frameshift 0.00000866●●●●●●
119. 96780742 c.1147C>G p.P383A missense 0.00000866●●●●●●
120. 96780768 c.1121T>C p.I374T missense 0.00000865●●●●●●
121. 96780753 c.1136delT p.Leu379ProfsTer40 frameshift 0.00000865●●●●●●
122. 96780768 c.1121T>G p.I374S missense 0.00000865●●●●●●
123. 96780764 c.1125_1126insA p.Val376SerfsTer165 frameshift 0.00000865●●●●●●
124. 96780733 c.1156_1158delTTC p.Phe386del inframe 0.00000865●●●●●●
125. 96780592 c.1297G>C p.A433P missense 0.00000864●●●●●●
126. 96780594 c.1295G>A p.R432H missense 0.00000863●●●●●●
127. 96781631 c.258G>T p.E86D missense 0.00000862●●●●●●
128. 96781633 c.256G>A p.E86K missense 0.00000862●●●●●●
129. 96781641 c.248C>T p.T83M missense 0.00000861●●●●●●
130. 96781627 c.262T>C p.Y88H missense 0.00000861●●●●●●
131. 96781739 c.150C>G p.F50L missense 0.00000861●●●●●●
132. 96780597 c.1292G>A p.R431H missense 0.00000861●●●●●●
133. 96781577 c.312C>A p.C104X nonsense 0.00000860●●●●●●
134. 96781647 c.242G>A p.R81Q missense 0.00000859●●●●●●
135. 96781647 c.242G>C p.R81P missense 0.00000859●●●●●●
136. 96780646 c.1243A>C p.N415H missense 0.00000859●●●●●●
137. 96781716 c.173A>G p.D58G missense 0.00000858●●●●●●
138. 96781576 c.313G>T p.A105S missense 0.00000858●●●●●●
139. 96781560 c.329G>C p.R110P missense 0.00000857●●●●●●
140. 96780604 c.1285G>C p.D429H missense 0.00000857●●●●●●
141. 96781561 c.328C>T p.R110C missense 0.00000857●●●●●●
142. 96780709 c.1180T>G p.C394G missense 0.00000856●●●●●●
143. 96781542 c.347G>T p.R116L missense 0.00000856●●●●●●
144. 96781557 c.332A>G p.Y111C missense 0.00000856●●●●●●
145. 96781173 c.716C>T p.S239F missense 0.00000856●●●●●●
146. 96781542 c.347G>A p.R116H missense 0.00000856●●●●●●
147. 96780609 c.1280delA p.Asn427ThrfsTer140 frameshift 0.00000856●●●●●●
148. 96781555 c.334T>C p.W112R missense 0.00000856●●●●●●
149. 96781673 c.216C>A p.N72K missense 0.00000854●●●●●●
150. 96781527 c.362A>G p.N121S missense 0.00000854●●●●●●
151. 96780639 c.1250C>T p.S417L missense 0.00000854●●●●●●
152. 96781182 c.707C>T p.A236V missense 0.00000854●●●●●●
153. 96780631 c.1258C>T p.P420S missense 0.00000853●●●●●●
154. 96781512 c.377C>T p.P126L missense 0.00000853●●●●●●
155. 96781696 c.193delA p.Ile65SerfsTer50 frameshift 0.00000852●●●●●●
156. 96781506 c.383G>C p.R128P missense 0.00000852●●●●●●
157. 96781201 c.688G>C p.A230P missense 0.00000850●●●●●●
158. 96781219 c.670G>A p.D224N missense 0.00000848●●●●●●
159. 96781485 c.404C>T p.T135I missense 0.00000848●●●●●●
160. 96781491 c.398T>A p.I133N missense 0.00000848●●●●●●
161. 96781217 c.672C>G p.D224E missense 0.00000848●●●●●●
162. 96781224 c.665G>A p.R222Q missense 0.00000846●●●●●●
163. 96781224 c.665G>C p.R222P missense 0.00000846●●●●●●
164. 96781452 c.437C>A p.P146Q missense 0.00000846●●●●●●
165. 96781221 c.668C>G p.P223R missense 0.00000846●●●●●●
166. 96781221 c.668C>T p.P223L missense 0.00000846●●●●●●
167. 96781432 c.457G>T p.D153Y missense 0.00000844●●●●●●
168. 96781229 c.660G>T p.Q220H missense 0.00000843●●●●●●
169. 96781228 c.661C>T p.P221S missense 0.00000843●●●●●●
170. 96781426 c.463G>A p.G155S missense 0.00000843●●●●●●
171. 96781240 c.649G>C p.E217Q missense 0.00000842●●●●●●
172. 96781420 c.469C>T p.Q157X nonsense 0.00000842●●●●●●
173. 96781416 c.473C>T p.P158L missense 0.00000841●●●●●●
174. 96781254 c.635G>C p.G212A missense 0.00000841●●●●●●
175. 96781254 c.635G>T p.G212V missense 0.00000841●●●●●●
176. 96781410 c.479G>A p.G160E missense 0.00000840●●●●●●
177. 96781257 c.632G>T p.G211V missense 0.00000839●●●●●●
178. 96781398 c.491G>A p.C164Y missense 0.00000838●●●●●●
179. 96781275 c.614G>T p.R205I missense 0.00000837●●●●●●
180. 96781272 c.617G>A p.G206D missense 0.00000837●●●●●●
181. 96781275 c.614G>C p.R205T missense 0.00000837●●●●●●
182. 96781280 c.609C>A p.N203K missense 0.00000836●●●●●●
183. 96781299 c.590T>A p.L197Q missense 0.00000835●●●●●●
184. 96781354 c.535G>C p.G179R missense 0.00000834●●●●●●
185. 96781357 c.532A>G p.I178V missense 0.00000834●●●●●●
186. 96781353 c.536G>T p.G179V missense 0.00000834●●●●●●
187. 96781309 c.580C>A p.R194S missense 0.00000834●●●●●●
188. 96781327 c.562A>C p.M188L missense 0.00000833●●●●●●
189. 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.