GPR183 missense variants in ExAC


The table below lists the GPR183 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 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. 99947987 c.413G>A p.R138H missense 0.00002472
26. 99947547 c.853T>G p.S285A 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. 99947427 c.973C>T p.R325W missense 0.00001648
45. 99947474 c.926T>C p.F309S missense 0.00001648
46. 99947436 c.964A>G p.M322V missense 0.00001648
47. 99947546 c.854C>T p.S285L missense 0.00001648
48. 99947544 c.856T>A p.F286I missense 0.00001648
49. 99948399 c.1A>G p.Met1? missense 0.00000898
50. 99948384 c.16G>A p.A6T missense 0.00000885
51. 99948375 c.25T>G p.F9V missense 0.00000877
52. 99948372 c.28A>G p.T10A missense 0.00000874
53. 99948357 c.43A>G p.T15A missense 0.00000858
54. 99948354 c.46C>A p.P16T missense 0.00000857
55. 99948349 c.51G>C p.Q17H missense 0.00000853
56. 99948341 c.59A>C p.D20A missense 0.00000850
57. 99948095 c.305C>G p.A102G missense 0.00000842
58. 99947728 c.672C>G p.F224L missense 0.00000839
59. 99947709 c.691C>T p.P231S missense 0.00000838
60. 99948072 c.328G>A p.V110M missense 0.00000837
61. 99947690 c.710G>T p.G237V missense 0.00000836
62. 99947693 c.707C>G p.S236C missense 0.00000836
63. 99947688 c.712G>A p.V238I missense 0.00000835
64. 99948153 c.247G>T p.A83S missense 0.00000835
65. 99947325 c.1075A>G p.N359D missense 0.00000835
66. 99948155 c.245C>T p.T82I missense 0.00000834
67. 99947792 c.608T>C p.I203T missense 0.00000833
68. 99948158 c.242C>G p.T81S missense 0.00000833
69. 99947678 c.722A>G p.K241R missense 0.00000833
70. 99947680 c.720A>C p.K240N missense 0.00000833
71. 99947843 c.557A>C p.N186T missense 0.00000830
72. 99948045 c.355G>A p.V119M missense 0.00000830
73. 99947834 c.566A>T p.E189V missense 0.00000830
74. 99948273 c.127A>G p.I43V missense 0.00000829
75. 99947339 c.1061A>C p.H354P missense 0.00000829
76. 99947341 c.1059A>G p.I353M missense 0.00000828
77. 99947340 c.1060C>T p.H354Y missense 0.00000828
78. 99947343 c.1057A>T p.I353L missense 0.00000827
79. 99947892 c.508C>G p.P170A missense 0.00000827
80. 99947892 c.508C>T p.P170S missense 0.00000827
81. 99947918 c.482C>T p.A161V missense 0.00000826
82. 99947615 c.785T>C p.V262A missense 0.00000826
83. 99947349 c.1051A>G p.M351V missense 0.00000826
84. 99948180 c.220G>A p.V74M missense 0.00000825
85. 99947597 c.803T>C p.M268T missense 0.00000825
86. 99948194 c.206A>T p.Y69F missense 0.00000825
87. 99948204 c.196A>G p.T66A missense 0.00000825
88. 99947591 c.809A>T p.K270M missense 0.00000825
89. 99947951 c.449G>A p.G150D missense 0.00000825
90. 99947378 c.1022A>G p.E341G missense 0.00000824
91. 99947574 c.826A>G p.N276D missense 0.00000824
92. 99947501 c.899A>G p.N300S missense 0.00000824
93. 99947558 c.842G>A p.S281N missense 0.00000824
94. 99947966 c.434T>A p.I145N missense 0.00000824
95. 99947396 c.1004T>C p.V335A missense 0.00000824
96. 99947577 c.823T>G p.S275A missense 0.00000824
97. 99947438 c.962G>A p.R321K missense 0.00000824
98. 99947988 c.412C>T p.R138C missense 0.00000824
99. 99947421 c.979G>A p.V327I missense 0.00000824
100. 99947440 c.960G>A p.M320I missense 0.00000824
101. 99947960 c.440A>G p.H147R 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.