ADRB2 missense variants in ExAC

ADRB2 gene summary
ADRB2 variants in

The table below lists the ADRB2 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. 148206473 c.79G>C p.E27Q missense 0.68338276●●●●●●
2. 148206440 c.46G>A p.G16R missense 0.42035996●●●●●●
3. 148206885 c.491C>T p.T164I missense 0.00945541●●●●●●
4. 148207053 c.659C>G p.S220C missense 0.00251211●●●●●●
5. 148206600 c.206A>G p.N69S missense 0.00091569●●●●●●
6. 148206954 c.560A>G p.N187S missense 0.00048595●●●●●●
7. 148206438 c.44A>G p.N15S missense 0.00023901●●●●●●
8. 148206776 c.382G>T p.A128S missense 0.00018120●●●●●●
9. 148207502 c.1108C>A p.Q370K missense 0.00014948●●●●●●
10. 148207040 c.646G>A p.V216I missense 0.00014826●●●●●●
11. 148207135 c.741G>T p.Q247H missense 0.00012359●●●●●●
12. 148206928 c.534C>A p.H178Q missense 0.00009060●●●●●●
13. 148207466 c.1072G>C p.G358R missense 0.00006592●●●●●●
14. 148206524 c.130G>A p.V44I missense 0.00005766●●●●●●
15. 148206401 c.7C>A p.Q3K missense 0.00004961●●●●●●
16. 148207170 c.776G>A p.R259H missense 0.00004119●●●●●●
17. 148207613 c.1219A>G p.S407G missense 0.00003509●●●●●●
18. 148207568 c.1174G>A p.G392S missense 0.00003473●●●●●●
19. 148206677 c.283C>G p.L95V missense 0.00003300●●●●●●
20. 148207283 c.889G>A p.V297M missense 0.00003295●●●●●●
21. 148207377 c.983G>A p.R328Q missense 0.00003295●●●●●●
22. 148206395 c.1A>G p.M1V missense 0.00002483●●●●●●
23. 148206405 c.11C>A p.P4H missense 0.00002479●●●●●●
24. 148207057 c.663G>C p.R221S missense 0.00002471●●●●●●
25. 148206740 c.346T>C p.C116R missense 0.00002471●●●●●●
26. 148207439 c.1045G>T p.A349S missense 0.00002471●●●●●●
27. 148207032 c.638T>C p.V213A missense 0.00002471●●●●●●
28. 148207092 c.698T>C p.I233T missense 0.00002471●●●●●●
29. 148206929 c.535C>G p.Q179E missense 0.00002471●●●●●●
30. 148206523 c.129C>G p.I43M missense 0.00002471●●●●●●
31. 148206509 c.115G>A p.V39I missense 0.00002471●●●●●●
32. 148207614 c.1220G>A p.S407N missense 0.00001755●●●●●●
33. 148207551 c.1157A>T p.D386V missense 0.00001722●●●●●●
34. 148207545 c.1151C>A p.T384K missense 0.00001717●●●●●●
35. 148206413 c.19G>T p.G7C missense 0.00001651●●●●●●
36. 148206413 c.19G>A p.G7S missense 0.00001651●●●●●●
37. 148206419 c.25G>A p.A9T missense 0.00001650●●●●●●
38. 148206612 c.218C>G p.T73S missense 0.00001650●●●●●●
39. 148207413 c.1019T>C p.L340P missense 0.00001648●●●●●●
40. 148206554 c.160G>A p.V54I missense 0.00001648●●●●●●
41. 148207393 c.999G>T p.R333S missense 0.00001648●●●●●●
42. 148207220 c.826G>A p.G276S missense 0.00001647●●●●●●
43. 148206845 c.451C>T p.R151W missense 0.00001647●●●●●●
44. 148206930 c.536A>G p.Q179R missense 0.00001647●●●●●●
45. 148207304 c.910C>T p.R304C missense 0.00001647●●●●●●
46. 148207268 c.874G>A p.V292I missense 0.00001647●●●●●●
47. 148206862 c.468G>T p.M156I missense 0.00001647●●●●●●
48. 148206950 c.556G>A p.A186T missense 0.00001647●●●●●●
49. 148207611 c.1217G>T p.C406F missense 0.00000877●●●●●●
50. 148207583 c.1189G>A p.D397N missense 0.00000875●●●●●●
51. 148207577 c.1183C>G p.P395A missense 0.00000872●●●●●●
52. 148207574 c.1180G>A p.V394M missense 0.00000871●●●●●●
53. 148207559 c.1165G>A p.G389S missense 0.00000865●●●●●●
54. 148207545 c.1151C>T p.T384M missense 0.00000859●●●●●●
55. 148207542 c.1148G>A p.G383D missense 0.00000856●●●●●●
56. 148207539 c.1145C>G p.P382R missense 0.00000855●●●●●●
57. 148207516 c.1122T>G p.N374K missense 0.00000840●●●●●●
58. 148207518 c.1124A>G p.K375R missense 0.00000840●●●●●●
59. 148207499 c.1105G>C p.E369Q missense 0.00000830●●●●●●
60. 148207502 c.1108C>G p.Q370E missense 0.00000830●●●●●●
61. 148207493 c.1099C>G p.H367D missense 0.00000827●●●●●●
62. 148206665 c.271G>A p.A91T missense 0.00000826●●●●●●
63. 148206642 c.248G>A p.G83D missense 0.00000826●●●●●●
64. 148206639 c.245T>A p.M82K missense 0.00000826●●●●●●
65. 148206407 c.13G>A p.G5R missense 0.00000826●●●●●●
66. 148206641 c.247G>T p.G83C missense 0.00000826●●●●●●
67. 148206657 c.263C>A p.P88H missense 0.00000826●●●●●●
68. 148207485 c.1091G>A p.S364N missense 0.00000825●●●●●●
69. 148206615 c.221C>T p.S74L missense 0.00000825●●●●●●
70. 148206591 c.197C>T p.T66M missense 0.00000825●●●●●●
71. 148206414 c.20G>T p.G7V missense 0.00000825●●●●●●
72. 148206418 c.24C>A p.S8R missense 0.00000825●●●●●●
73. 148206951 c.557C>A p.A186D missense 0.00000824●●●●●●
74. 148206437 c.43A>G p.N15D missense 0.00000824●●●●●●
75. 148207364 c.970C>T p.L324F missense 0.00000824●●●●●●
76. 148207149 c.755G>A p.G252E missense 0.00000824●●●●●●
77. 148206909 c.515A>G p.H172R missense 0.00000824●●●●●●
78. 148207163 c.769G>A p.G257R missense 0.00000824●●●●●●
79. 148206512 c.118A>G p.M40V missense 0.00000824●●●●●●
80. 148206483 c.89A>G p.E30G missense 0.00000824●●●●●●
81. 148207292 c.898G>A p.D300N missense 0.00000824●●●●●●
82. 148207126 c.732C>G p.N244K missense 0.00000824●●●●●●
83. 148207077 c.683G>A p.R228K missense 0.00000824●●●●●●
84. 148206801 c.407C>T p.T136I missense 0.00000824●●●●●●
85. 148207464 c.1070A>G p.N357S missense 0.00000824●●●●●●
86. 148207368 c.974T>C p.I325T missense 0.00000824●●●●●●
87. 148206450 c.56C>T p.A19V missense 0.00000824●●●●●●
88. 148207380 c.986G>A p.S329N missense 0.00000824●●●●●●
89. 148207151 c.757C>T p.R253W missense 0.00000824●●●●●●
90. 148206685 c.291A>C p.K97N missense 0.00000824●●●●●●
91. 148207422 c.1028G>A p.R343H missense 0.00000824●●●●●●
92. 148206515 c.121T>C p.S41P missense 0.00000824●●●●●●
93. 148206497 c.103G>A p.G35S missense 0.00000824●●●●●●
94. 148207296 c.902A>G p.N301S missense 0.00000824●●●●●●
95. 148207053 c.659C>T p.S220F missense 0.00000824●●●●●●
96. 148207098 c.704A>G p.K235R missense 0.00000824●●●●●●
97. 148206812 c.418A>G p.K140E missense 0.00000824●●●●●●
98. 148206574 c.180G>T p.K60N missense 0.00000824●●●●●●
99. 148207376 c.982C>T p.R328W missense 0.00000824●●●●●●
100. 148206450 c.56C>A p.A19E missense 0.00000824●●●●●●
101. 148207262 c.868T>G p.F290V missense 0.00000824●●●●●●
102. 148207169 c.775C>T p.R259C missense 0.00000824●●●●●●
103. 148206687 c.293T>C p.M98T missense 0.00000824●●●●●●
104. 148207430 c.1036T>C p.S346P missense 0.00000824●●●●●●
105. 148207313 c.919G>C p.V307L missense 0.00000824●●●●●●
106. 148207121 c.727C>A p.Q243K missense 0.00000824●●●●●●
107. 148207281 c.887A>G p.H296R missense 0.00000824●●●●●●
108. 148206813 c.419A>T p.K140M missense 0.00000824●●●●●●
109. 148206863 c.469G>A p.V157M missense 0.00000824●●●●●●
110. 148207353 c.959G>A p.G320D missense 0.00000824●●●●●●
111. 148206580 c.186G>C p.E62D missense 0.00000824●●●●●●
112. 148207395 c.1001T>A p.I334N missense 0.00000824●●●●●●
113. 148207377 c.983G>T p.R328L missense 0.00000824●●●●●●
114. 148206468 c.74C>T p.T25M missense 0.00000824●●●●●●
115. 148207188 c.794G>T p.C265F missense 0.00000824●●●●●●
116. 148207269 c.875T>A p.V292D 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.