GPR183 variants in ExAC


The table below lists the GPR183 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 frequencyPopulations*
1. 99947550 c.850C>T p.H284Y missense 0.00106285
2. 99947943 c.457A>G p.I153V missense 0.00066014
3. 99947949 c.451G>A p.V151M missense 0.00042894
4. 99948121 c.279G>A p.M93I missense 0.00039568
5. 99947715 c.685C>A p.Q229K missense 0.00022636
6. 99948249 c.151C>G p.L51V missense 0.00018996
7. 99947649 c.751G>A p.V251I missense 0.00014921
8. 99948314 c.86C>T p.T29M missense 0.00013471
9. 99947599 c.801T>A p.H267Q missense 0.00009900
10. 99948198 c.202C>T p.L68F missense 0.00009896
11. 99947843 c.557A>G p.N186S missense 0.00007467
12. 99947828 c.572A>C p.K191T missense 0.00006639
13. 99948269 c.131T>C p.I44T missense 0.00006625
14. 99948261 c.139G>A p.V47M missense 0.00005792
15. 99948279 c.121G>C p.V41L missense 0.00004981
16. 99948369 c.31C>T p.P11S missense 0.00004360
17. 99948077 c.323C>T p.A108V missense 0.00004193
18. 99947942 c.458T>C p.I153T missense 0.00004126
19. 99948279 c.121G>A p.V41I missense 0.00003321
20. 99947501 c.899A>C p.N300T missense 0.00003295
21. 99948105 c.295A>T p.I99F missense 0.00002525
22. 99948153 c.247G>A p.A83T missense 0.00002506
23. 99947891 c.509C>G p.P170R missense 0.00002483
24. 99947966 c.434T>C p.I145T missense 0.00002473
25. 99947547 c.853T>G p.S285A missense 0.00002472
26. 99947987 c.413G>A p.R138H missense 0.00002472
27. 99948398 c.2T>C p.Met1? missense 0.00001795
28. 99948314 c.86C>A p.T29K missense 0.00001684
29. 99948122 c.278T>C p.M93T missense 0.00001683
30. 99948084 c.316A>G p.I106V missense 0.00001679
31. 99947322 c.1078G>C p.G360R missense 0.00001676
32. 99948305 c.95T>C p.I32T missense 0.00001676
33. 99948302 c.98T>C p.V33A missense 0.00001673
34. 99947325 c.1075A>C p.N359H missense 0.00001671
35. 99947829 c.571A>G p.K191E missense 0.00001660
36. 99947874 c.526G>T p.A176S missense 0.00001657
37. 99948035 c.365T>C p.M122T missense 0.00001656
38. 99947642 c.758T>C p.F253S missense 0.00001655
39. 99947345 c.1055T>C p.M352T missense 0.00001654
40. 99948020 c.380T>C p.I127T missense 0.00001651
41. 99947362 c.1038G>A p.M346I missense 0.00001650
42. 99947369 c.1031G>A p.R344H missense 0.00001649
43. 99947582 c.818G>T p.R273L missense 0.00001649
44. 99947474 c.926T>C p.F309S missense 0.00001648
45. 99947427 c.973C>T p.R325W missense 0.00001648
46. 99947546 c.854C>T p.S285L missense 0.00001648
47. 99947436 c.964A>G p.M322V missense 0.00001648
48. 99947544 c.856T>A p.F286I missense 0.00001648
49. 0 c.-18-7T>C splice site 0.00000926
50. 99948422 c.-18-5delT splice site 0.00000923
51. 99948416 c.-17C>T splice site 0.00000917
52. 99948399 c.1A>G p.Met1? missense 0.00000898
53. 99948384 c.16G>A p.A6T missense 0.00000885
54. 99948375 c.25T>G p.F9V missense 0.00000877
55. 99948372 c.28A>G p.T10A missense 0.00000874
56. 99948357 c.43A>G p.T15A missense 0.00000858
57. 99948354 c.46C>A p.P16T missense 0.00000857
58. 99948349 c.51G>C p.Q17H missense 0.00000853
59. 99948341 c.59A>C p.D20A missense 0.00000850
60. 99948095 c.305C>G p.A102G missense 0.00000842
61. 99947728 c.672C>G p.F224L missense 0.00000839
62. 99947748 c.652C>T p.Q218X nonsense 0.00000839
63. 99947709 c.691C>T p.P231S missense 0.00000838
64. 99948141 c.259C>T p.R87X nonsense 0.00000838
65. 99948072 c.328G>A p.V110M missense 0.00000837
66. 99947693 c.707C>G p.S236C missense 0.00000836
67. 99947690 c.710G>T p.G237V missense 0.00000836
68. 99947325 c.1075A>G p.N359D missense 0.00000835
69. 99947688 c.712G>A p.V238I missense 0.00000835
70. 99948153 c.247G>T p.A83S missense 0.00000835
71. 99948155 c.245C>T p.T82I missense 0.00000834
72. 99947678 c.722A>G p.K241R missense 0.00000833
73. 99947680 c.720A>C p.K240N missense 0.00000833
74. 99947792 c.608T>C p.I203T missense 0.00000833
75. 99948158 c.242C>G p.T81S missense 0.00000833
76. 99948286 c.114C>A p.Y38X nonsense 0.00000832
77. 99948045 c.355G>A p.V119M missense 0.00000830
78. 99947834 c.566A>T p.E189V missense 0.00000830
79. 99947843 c.557A>C p.N186T missense 0.00000830
80. 99947339 c.1061A>C p.H354P missense 0.00000829
81. 99948273 c.127A>G p.I43V missense 0.00000829
82. 99947341 c.1059A>G p.I353M missense 0.00000828
83. 99947340 c.1060C>T p.H354Y missense 0.00000828
84. 99947892 c.508C>G p.P170A missense 0.00000827
85. 99947343 c.1057A>T p.I353L missense 0.00000827
86. 99947892 c.508C>T p.P170S missense 0.00000827
87. 99947615 c.785T>C p.V262A missense 0.00000826
88. 99947918 c.482C>T p.A161V missense 0.00000826
89. 99947349 c.1051A>G p.M351V missense 0.00000826
90. 99948204 c.196A>G p.T66A missense 0.00000825
91. 99947591 c.809A>T p.K270M missense 0.00000825
92. 99948180 c.220G>A p.V74M missense 0.00000825
93. 99947597 c.803T>C p.M268T missense 0.00000825
94. 99947951 c.449G>A p.G150D missense 0.00000825
95. 99948194 c.206A>T p.Y69F missense 0.00000825
96. 99947574 c.826A>G p.N276D missense 0.00000824
97. 99947988 c.412C>T p.R138C missense 0.00000824
98. 99947378 c.1022A>G p.E341G missense 0.00000824
99. 99947960 c.440A>G p.H147R missense 0.00000824
100. 99947501 c.899A>G p.N300S missense 0.00000824
101. 99947438 c.962G>A p.R321K missense 0.00000824
102. 99947396 c.1004T>C p.V335A missense 0.00000824
103. 99947558 c.842G>A p.S281N missense 0.00000824
104. 99947577 c.823T>G p.S275A missense 0.00000824
105. 99947440 c.960G>A p.M320I missense 0.00000824
106. 99947966 c.434T>A p.I145N missense 0.00000824
107. 99947421 c.979G>A p.V327I 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.