CCR5 missense variants in ExAC

CCR5 gene summary
CCR5 variants in

The table below lists the CCR5 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. 46414557 c.164T>A p.L55Q missense 0.01272569●●●●●●
2. 46415061 c.668G>A p.R223Q missense 0.00502993●●●●●●
3. 46415397 c.1004C>T p.A335V missense 0.00353485●●●●●●
4. 46415409 c.1016A>T p.Y339F missense 0.00119436●●●●●●
5. 46414580 c.187A>T p.S63C missense 0.00084841●●●●●●
6. 46414611 c.218C>T p.A73V missense 0.00075781●●●●●●
7. 46414573 c.180G>T p.R60S missense 0.00072488●●●●●●
8. 46415255 c.862A>G p.T288A missense 0.00042905●●●●●●
9. 46414709 c.316G>A p.G106R missense 0.00042831●●●●●●
10. 46414451 c.58T>A p.C20S missense 0.00042340●●●●●●
11. 46414529 c.136G>A p.V46M missense 0.00021417●●●●●●
12. 46414712 c.319C>T p.L107F missense 0.00020592●●●●●●
13. 46414784 c.391G>T p.V131F missense 0.00018122●●●●●●
14. 46415348 c.955C>T p.R319C missense 0.00014052●●●●●●
15. 46414470 c.77A>G p.K26R missense 0.00011641●●●●●●
16. 46415060 c.667C>T p.R223W missense 0.00011546●●●●●●
17. 46414585 c.192G>A p.M64I missense 0.00011532●●●●●●
18. 46414755 c.362T>G p.L121R missense 0.00011532●●●●●●
19. 46414485 c.92G>A p.R31H missense 0.00010722●●●●●●
20. 46414784 c.391G>A p.V131I missense 0.00009061●●●●●●
21. 46414869 c.476C>T p.A159V missense 0.00008240●●●●●●
22. 46415424 c.1031G>T p.G344V missense 0.00007114●●●●●●
23. 46415424 c.1031G>A p.G344E missense 0.00007114●●●●●●
24. 46415400 c.1007G>T p.S336I missense 0.00006910●●●●●●
25. 46414445 c.52G>A p.E18K missense 0.00006848●●●●●●
26. 46415256 c.863C>T p.T288M missense 0.00006604●●●●●●
27. 46414908 c.515A>C p.E172A missense 0.00006595●●●●●●
28. 46415207 c.814T>C p.S272P missense 0.00006594●●●●●●
29. 46414436 c.43T>C p.Y15H missense 0.00006090●●●●●●
30. 46415067 c.674G>A p.R225Q missense 0.00005773●●●●●●
31. 46415040 c.647G>T p.G216V missense 0.00004947●●●●●●
32. 46414536 c.143A>G p.N48S missense 0.00004942●●●●●●
33. 46414721 c.328A>C p.I110L missense 0.00004942●●●●●●
34. 46415349 c.956G>A p.R319H missense 0.00004134●●●●●●
35. 46414925 c.532T>C p.C178R missense 0.00004123●●●●●●
36. 46415199 c.806G>A p.C269Y missense 0.00004120●●●●●●
37. 46414852 c.459G>T p.W153C missense 0.00004119●●●●●●
38. 46414598 c.205C>G p.L69V missense 0.00004118●●●●●●
39. 46414443 c.50C>T p.S17L missense 0.00003447●●●●●●
40. 46414939 c.546T>G p.F182L missense 0.00003322●●●●●●
41. 46415345 c.952A>G p.K318E missense 0.00003305●●●●●●
42. 46415235 c.842T>C p.V281A missense 0.00003300●●●●●●
43. 46414887 c.494T>C p.I165T missense 0.00003297●●●●●●
44. 46414595 c.202T>C p.Y68H missense 0.00003295●●●●●●
45. 46414605 c.212A>G p.N71S missense 0.00003295●●●●●●
46. 46414815 c.422C>T p.T141M missense 0.00003295●●●●●●
47. 46414443 c.50C>G p.S17W missense 0.00002585●●●●●●
48. 46415394 c.1001G>A p.R334Q missense 0.00002578●●●●●●
49. 46414478 c.85G>T p.A29S missense 0.00002480●●●●●●
50. 46415258 c.865C>G p.H289D missense 0.00002476●●●●●●
51. 46415232 c.839A>C p.Q280P missense 0.00002475●●●●●●
52. 46415133 c.740T>C p.F247S missense 0.00002472●●●●●●
53. 46414596 c.203A>C p.Y68S missense 0.00002471●●●●●●
54. 46414961 c.568T>C p.W190R missense 0.00001840●●●●●●
55. 46414963 c.570G>T p.W190C missense 0.00001813●●●●●●
56. 46415437 c.1044A>G p.I348M missense 0.00001800●●●●●●
57. 46415424 c.1031G>C p.G344A missense 0.00001778●●●●●●
58. 46414425 c.32A>G p.D11G missense 0.00001763●●●●●●
59. 46415415 c.1022G>A p.R341Q missense 0.00001761●●●●●●
60. 46415397 c.1004C>G p.A335G missense 0.00001724●●●●●●
61. 46415393 c.1000C>G p.R334G missense 0.00001719●●●●●●
62. 46415390 c.997G>A p.E333K missense 0.00001713●●●●●●
63. 46415391 c.998A>C p.E333A missense 0.00001713●●●●●●
64. 46415377 c.984G>C p.Q328H missense 0.00001681●●●●●●
65. 46414458 c.65A>C p.K22T missense 0.00001678●●●●●●
66. 46414467 c.74T>A p.V25E missense 0.00001666●●●●●●
67. 46415224 c.831A>T p.Q277H missense 0.00001649●●●●●●
68. 46415208 c.815C>G p.S272C missense 0.00001649●●●●●●
69. 46414885 c.492C>G p.I164M missense 0.00001648●●●●●●
70. 46415151 c.758T>C p.I253T missense 0.00001648●●●●●●
71. 46414497 c.104C>T p.P35L missense 0.00001648●●●●●●
72. 46414509 c.116T>C p.L39P missense 0.00001648●●●●●●
73. 46414869 c.476C>A p.A159E missense 0.00001648●●●●●●
74. 46414670 c.277C>G p.Q93E missense 0.00001647●●●●●●
75. 46414716 c.323A>G p.Y108C missense 0.00001647●●●●●●
76. 46414752 c.359T>C p.I120T missense 0.00001647●●●●●●
77. 46414766 c.373G>A p.D125N missense 0.00001647●●●●●●
78. 46414722 c.329T>C p.I110T missense 0.00001647●●●●●●
79. 46414961 c.568T>G p.W190G missense 0.00000920●●●●●●
80. 46414972 c.579C>G p.F193L missense 0.00000906●●●●●●
81. 46414953 c.560A>G p.Y187C missense 0.00000905●●●●●●
82. 46414406 c.13G>A p.V5M missense 0.00000896●●●●●●
83. 46414407 c.14T>G p.V5G missense 0.00000896●●●●●●
84. 46414946 c.553A>C p.S185R missense 0.00000891●●●●●●
85. 46414958 c.565T>A p.F189I missense 0.00000889●●●●●●
86. 46414958 c.565T>C p.F189L missense 0.00000889●●●●●●
87. 46415417 c.1024T>G p.S342A missense 0.00000881●●●●●●
88. 46414427 c.34A>G p.I12V missense 0.00000879●●●●●●
89. 46414428 c.35T>C p.I12T missense 0.00000878●●●●●●
90. 46414430 c.37A>G p.N13D missense 0.00000876●●●●●●
91. 46415409 c.1016A>G p.Y339C missense 0.00000872●●●●●●
92. 46414437 c.44A>G p.Y15C missense 0.00000869●●●●●●
93. 46415384 c.991G>C p.A331P missense 0.00000850●●●●●●
94. 46415376 c.983A>G p.Q328R missense 0.00000839●●●●●●
95. 46415351 c.958T>G p.F320V missense 0.00000827●●●●●●
96. 46414478 c.85G>A p.A29T missense 0.00000827●●●●●●
97. 46415286 c.893C>A p.A298D missense 0.00000826●●●●●●
98. 46415018 c.625G>A p.V209I missense 0.00000825●●●●●●
99. 46415268 c.875T>G p.I292S missense 0.00000825●●●●●●
100. 46415253 c.860T>A p.M287K missense 0.00000825●●●●●●
101. 46415023 c.630G>C p.M210I missense 0.00000825●●●●●●
102. 46414922 c.529A>T p.T177S missense 0.00000825●●●●●●
103. 46415267 c.874A>G p.I292V missense 0.00000825●●●●●●
104. 46415232 c.839A>G p.Q280R missense 0.00000825●●●●●●
105. 46415010 c.617C>T p.P206L missense 0.00000825●●●●●●
106. 46415272 c.879C>A p.N293K missense 0.00000825●●●●●●
107. 46415058 c.665T>C p.L222P missense 0.00000825●●●●●●
108. 46414929 c.536G>A p.S179N missense 0.00000825●●●●●●
109. 46415294 c.901G>A p.G301R missense 0.00000825●●●●●●
110. 46414932 c.539C>T p.S180F missense 0.00000825●●●●●●
111. 46415246 c.853C>G p.L285V missense 0.00000825●●●●●●
112. 46415052 c.659C>T p.T220I missense 0.00000825●●●●●●
113. 46414557 c.164T>G p.L55R missense 0.00000824●●●●●●
114. 46414539 c.146T>A p.M49K missense 0.00000824●●●●●●
115. 46414884 c.491T>C p.I164T missense 0.00000824●●●●●●
116. 46414850 c.457T>G p.W153G missense 0.00000824●●●●●●
117. 46414745 c.352T>C p.F118L missense 0.00000824●●●●●●
118. 46414761 c.368C>A p.T123K missense 0.00000824●●●●●●
119. 46415166 c.773A>G p.N258S missense 0.00000824●●●●●●
120. 46414673 c.280T>C p.W94R missense 0.00000824●●●●●●
121. 46415121 c.728T>C p.V243A missense 0.00000824●●●●●●
122. 46415087 c.694A>G p.R232G missense 0.00000824●●●●●●
123. 46414496 c.103C>T p.P35S missense 0.00000824●●●●●●
124. 46414775 c.382C>A p.L128M missense 0.00000824●●●●●●
125. 46414751 c.358A>G p.I120V missense 0.00000824●●●●●●
126. 46414487 c.94C>T p.L32F missense 0.00000824●●●●●●
127. 46414804 c.411A>T p.L137F missense 0.00000824●●●●●●
128. 46414724 c.331G>A p.G111S missense 0.00000824●●●●●●
129. 46414653 c.260C>A p.A87D missense 0.00000824●●●●●●
130. 46414611 c.218C>A p.A73D missense 0.00000824●●●●●●
131. 46414540 c.147G>A p.M49I missense 0.00000824●●●●●●
132. 46414676 c.283G>A p.D95N missense 0.00000824●●●●●●
133. 46414763 c.370A>G p.I124V missense 0.00000824●●●●●●
134. 46414751 c.358A>C p.I120L missense 0.00000824●●●●●●
135. 46414679 c.286T>C p.F96L missense 0.00000824●●●●●●
136. 46415129 c.736C>A p.L246I missense 0.00000824●●●●●●
137. 46415099 c.706C>A p.L236I missense 0.00000824●●●●●●
138. 46414599 c.206T>C p.L69P missense 0.00000824●●●●●●
139. 46414821 c.428C>A p.T143N missense 0.00000824●●●●●●
140. 46414730 c.337T>C p.F113L missense 0.00000824●●●●●●
141. 46415152 c.759T>G p.I253M missense 0.00000824●●●●●●
142. 46414667 c.274G>A p.A92T missense 0.00000824●●●●●●
143. 46415217 c.824T>G p.L275W missense 0.00000824●●●●●●
144. 46414554 c.161T>C p.I54T missense 0.00000824●●●●●●
145. 46414899 c.506C>A p.S169Y missense 0.00000824●●●●●●
146. 46414768 c.375T>A p.D125E missense 0.00000824●●●●●●
147. 46414695 c.302G>A p.C101Y missense 0.00000824●●●●●●
148. 46414643 c.250C>T p.P84S missense 0.00000824●●●●●●
149. 46415109 c.716C>A p.T239N missense 0.00000824●●●●●●
150. 46414823 c.430T>A p.F144I missense 0.00000824●●●●●●
151. 46414736 c.343G>A p.G115R missense 0.00000824●●●●●●
152. 46415153 c.760G>A p.V254I missense 0.00000824●●●●●●
153. 46414673 c.280T>G p.W94G missense 0.00000824●●●●●●
154. 46415112 c.719T>A p.I240N missense 0.00000824●●●●●●
155. 46414595 c.202T>A p.Y68N missense 0.00000824●●●●●●
156. 46414720 c.327T>G p.F109L missense 0.00000824●●●●●●
157. 46414715 c.322T>C p.Y108H missense 0.00000824●●●●●●
158. 46414608 c.215T>C p.L72P missense 0.00000824●●●●●●
159. 46415137 c.744G>T p.W248C missense 0.00000824●●●●●●
160. 46414652 c.259G>C p.A87P 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.