CCR5 variants in ExAC

CCR5 gene summary
CCR5 variants in

The table below lists the CCR5 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. 46414384 c.-10G>C splice site 0.00498033●●●●●●
4. 46415397 c.1004C>T p.A335V missense 0.00353485●●●●●●
5. 46415409 c.1016A>T p.Y339F missense 0.00119436●●●●●●
6. 46414580 c.187A>T p.S63C missense 0.00084841●●●●●●
7. 46415286 c.893delC p.Phe299LeufsTer11 frameshift 0.00081670●●●●●●
8. 46414611 c.218C>T p.A73V missense 0.00075781●●●●●●
9. 46414573 c.180G>T p.R60S missense 0.00072488●●●●●●
10. 46414696 c.303T>A p.C101X nonsense 0.00058480●●●●●●
11. 46415255 c.862A>G p.T288A missense 0.00042905●●●●●●
12. 46414709 c.316G>A p.G106R missense 0.00042831●●●●●●
13. 46414451 c.58T>A p.C20S missense 0.00042340●●●●●●
14. 0 c.-11-7T>G splice site 0.00021740●●●●●●
15. 46414529 c.136G>A p.V46M missense 0.00021417●●●●●●
16. 46414712 c.319C>T p.L107F missense 0.00020592●●●●●●
17. 46415066 c.673C>T p.R225X nonsense 0.00018146●●●●●●
18. 46414784 c.391G>T p.V131F missense 0.00018122●●●●●●
19. 46414443 c.50C>A p.S17X nonsense 0.00015511●●●●●●
20. 46415348 c.955C>T p.R319C missense 0.00014052●●●●●●
21. 46414470 c.77A>G p.K26R missense 0.00011641●●●●●●
22. 46415060 c.667C>T p.R223W missense 0.00011546●●●●●●
23. 46414585 c.192G>A p.M64I missense 0.00011532●●●●●●
24. 46414755 c.362T>G p.L121R missense 0.00011532●●●●●●
25. 46414485 c.92G>A p.R31H missense 0.00010722●●●●●●
26. 46415073 c.680_682delAGA p.Lys229del inframe 0.00009895●●●●●●
27. 46414784 c.391G>A p.V131I missense 0.00009061●●●●●●
28. 46414869 c.476C>T p.A159V missense 0.00008240●●●●●●
29. 46415424 c.1031G>A p.G344E missense 0.00007114●●●●●●
30. 46415424 c.1031G>T p.G344V missense 0.00007114●●●●●●
31. 46415400 c.1007G>T p.S336I missense 0.00006910●●●●●●
32. 46414445 c.52G>A p.E18K missense 0.00006848●●●●●●
33. 46415256 c.863C>T p.T288M missense 0.00006604●●●●●●
34. 46414908 c.515A>C p.E172A missense 0.00006595●●●●●●
35. 46415207 c.814T>C p.S272P missense 0.00006594●●●●●●
36. 46414436 c.43T>C p.Y15H missense 0.00006090●●●●●●
37. 46415067 c.674G>A p.R225Q missense 0.00005773●●●●●●
38. 46415272 c.879delC p.Ile295SerfsTer15 frameshift 0.00004951●●●●●●
39. 46415040 c.647G>T p.G216V missense 0.00004947●●●●●●
40. 46414536 c.143A>G p.N48S missense 0.00004942●●●●●●
41. 46414721 c.328A>C p.I110L missense 0.00004942●●●●●●
42. 46415349 c.956G>A p.R319H missense 0.00004134●●●●●●
43. 46414925 c.532T>C p.C178R missense 0.00004123●●●●●●
44. 46415199 c.806G>A p.C269Y missense 0.00004120●●●●●●
45. 46414852 c.459G>T p.W153C missense 0.00004119●●●●●●
46. 46414598 c.205C>G p.L69V missense 0.00004118●●●●●●
47. 46415414 c.1021C>T p.R341X nonsense 0.00003515●●●●●●
48. 46414443 c.50C>T p.S17L missense 0.00003447●●●●●●
49. 46414939 c.546T>G p.F182L missense 0.00003322●●●●●●
50. 46415345 c.952A>G p.K318E missense 0.00003305●●●●●●
51. 46415235 c.842T>C p.V281A missense 0.00003300●●●●●●
52. 46414887 c.494T>C p.I165T missense 0.00003297●●●●●●
53. 46414595 c.202T>C p.Y68H missense 0.00003295●●●●●●
54. 46414815 c.422C>T p.T141M missense 0.00003295●●●●●●
55. 46414605 c.212A>G p.N71S missense 0.00003295●●●●●●
56. 46414443 c.50C>G p.S17W missense 0.00002585●●●●●●
57. 46415394 c.1001G>A p.R334Q missense 0.00002578●●●●●●
58. 46414478 c.85G>T p.A29S missense 0.00002480●●●●●●
59. 46415258 c.865C>G p.H289D missense 0.00002476●●●●●●
60. 46415000 c.607_608insAGA p.Leu203delinsGlnMet inframe 0.00002475●●●●●●
61. 46415232 c.839A>C p.Q280P missense 0.00002475●●●●●●
62. 46415133 c.740T>C p.F247S missense 0.00002472●●●●●●
63. 46414596 c.203A>C p.Y68S missense 0.00002471●●●●●●
64. 46414961 c.568T>C p.W190R missense 0.00001840●●●●●●
65. 46414963 c.570G>T p.W190C missense 0.00001813●●●●●●
66. 46415437 c.1044A>G p.I348M missense 0.00001800●●●●●●
67. 46415424 c.1031G>C p.G344A missense 0.00001778●●●●●●
68. 46414425 c.32A>G p.D11G missense 0.00001763●●●●●●
69. 46415415 c.1022G>A p.R341Q missense 0.00001761●●●●●●
70. 46415397 c.1004C>G p.A335G missense 0.00001724●●●●●●
71. 46415393 c.1000C>G p.R334G missense 0.00001719●●●●●●
72. 46415391 c.998A>C p.E333A missense 0.00001713●●●●●●
73. 46415390 c.997G>A p.E333K missense 0.00001713●●●●●●
74. 46415377 c.984G>C p.Q328H missense 0.00001681●●●●●●
75. 46414458 c.65A>C p.K22T missense 0.00001678●●●●●●
76. 46414467 c.74T>A p.V25E missense 0.00001666●●●●●●
77. 46415224 c.831A>T p.Q277H missense 0.00001649●●●●●●
78. 46415208 c.815C>G p.S272C missense 0.00001649●●●●●●
79. 46414869 c.476C>A p.A159E missense 0.00001648●●●●●●
80. 46415151 c.758T>C p.I253T missense 0.00001648●●●●●●
81. 46415174 c.781C>T p.Q261X nonsense 0.00001648●●●●●●
82. 46414497 c.104C>T p.P35L missense 0.00001648●●●●●●
83. 46414509 c.116T>C p.L39P missense 0.00001648●●●●●●
84. 46414885 c.492C>G p.I164M missense 0.00001648●●●●●●
85. 46414752 c.359T>C p.I120T missense 0.00001647●●●●●●
86. 46414722 c.329T>C p.I110T missense 0.00001647●●●●●●
87. 46414670 c.277C>G p.Q93E missense 0.00001647●●●●●●
88. 46414716 c.323A>G p.Y108C missense 0.00001647●●●●●●
89. 46414542 c.149delT p.Leu50ArgfsTer6 frameshift 0.00001647●●●●●●
90. 46414766 c.373G>A p.D125N missense 0.00001647●●●●●●
91. 46414945 c.552C>G p.Y184X nonsense 0.00000932●●●●●●
92. 46414961 c.568T>G p.W190G missense 0.00000920●●●●●●
93. 46414972 c.579C>G p.F193L missense 0.00000906●●●●●●
94. 46414953 c.560A>G p.Y187C missense 0.00000905●●●●●●
95. 0 c.-11-3C>T splice site 0.00000904●●●●●●
96. 46414384 c.-10G>A splice site 0.00000902●●●●●●
97. 46414949 c.556C>T p.Q186X nonsense 0.00000898●●●●●●
98. 46414407 c.14T>G p.V5G missense 0.00000896●●●●●●
99. 46414406 c.13G>A p.V5M missense 0.00000896●●●●●●
100. 46414946 c.553A>C p.S185R missense 0.00000891●●●●●●
101. 46414958 c.565T>A p.F189I missense 0.00000889●●●●●●
102. 46414958 c.565T>C p.F189L missense 0.00000889●●●●●●
103. 46415417 c.1024T>G p.S342A missense 0.00000881●●●●●●
104. 46414427 c.34A>G p.I12V missense 0.00000879●●●●●●
105. 46414428 c.35T>C p.I12T missense 0.00000878●●●●●●
106. 46414430 c.37A>G p.N13D missense 0.00000876●●●●●●
107. 46415409 c.1016A>G p.Y339C missense 0.00000872●●●●●●
108. 46414437 c.44A>G p.Y15C missense 0.00000869●●●●●●
109. 46415384 c.991G>C p.A331P missense 0.00000850●●●●●●
110. 46414453 c.60C>A p.C20X nonsense 0.00000844●●●●●●
111. 46414454 c.61_62insA p.Ile23AsnfsTer44 frameshift 0.00000843●●●●●●
112. 46414457 c.64A>T p.K22X nonsense 0.00000840●●●●●●
113. 46415376 c.983A>G p.Q328R missense 0.00000839●●●●●●
114. 46415351 c.958T>G p.F320V missense 0.00000827●●●●●●
115. 46414478 c.85G>A p.A29T missense 0.00000827●●●●●●
116. 46415286 c.893C>A p.A298D missense 0.00000826●●●●●●
117. 46415023 c.630G>C p.M210I missense 0.00000825●●●●●●
118. 46414932 c.539C>T p.S180F missense 0.00000825●●●●●●
119. 46415246 c.853C>G p.L285V missense 0.00000825●●●●●●
120. 46415267 c.874A>G p.I292V missense 0.00000825●●●●●●
121. 46415052 c.659C>T p.T220I missense 0.00000825●●●●●●
122. 46415268 c.875T>G p.I292S missense 0.00000825●●●●●●
123. 46415058 c.665T>C p.L222P missense 0.00000825●●●●●●
124. 46415253 c.860T>A p.M287K missense 0.00000825●●●●●●
125. 46415232 c.839A>G p.Q280R missense 0.00000825●●●●●●
126. 46415294 c.901G>A p.G301R missense 0.00000825●●●●●●
127. 46415010 c.617C>T p.P206L missense 0.00000825●●●●●●
128. 46414922 c.529A>T p.T177S missense 0.00000825●●●●●●
129. 46415272 c.879C>A p.N293K missense 0.00000825●●●●●●
130. 46415018 c.625G>A p.V209I missense 0.00000825●●●●●●
131. 46414929 c.536G>A p.S179N missense 0.00000825●●●●●●
132. 46414651 c.258G>A p.W86X nonsense 0.00000824●●●●●●
133. 46414608 c.215T>C p.L72P missense 0.00000824●●●●●●
134. 46415121 c.728T>C p.V243A missense 0.00000824●●●●●●
135. 46414703 c.310_311delTT p.Leu104AspfsTer22 frameshift 0.00000824●●●●●●
136. 46414557 c.164T>G p.L55R missense 0.00000824●●●●●●
137. 46414539 c.146T>A p.M49K missense 0.00000824●●●●●●
138. 46414823 c.430T>A p.F144I missense 0.00000824●●●●●●
139. 46414775 c.382C>A p.L128M missense 0.00000824●●●●●●
140. 46414736 c.343G>A p.G115R missense 0.00000824●●●●●●
141. 46415166 c.773A>G p.N258S missense 0.00000824●●●●●●
142. 46414695 c.302G>A p.C101Y missense 0.00000824●●●●●●
143. 46414673 c.280T>G p.W94G missense 0.00000824●●●●●●
144. 46415087 c.694A>G p.R232G missense 0.00000824●●●●●●
145. 46414496 c.103C>T p.P35S missense 0.00000824●●●●●●
146. 46414751 c.358A>G p.I120V missense 0.00000824●●●●●●
147. 46415129 c.736C>A p.L246I missense 0.00000824●●●●●●
148. 46414652 c.259G>C p.A87P missense 0.00000824●●●●●●
149. 46415217 c.824T>G p.L275W missense 0.00000824●●●●●●
150. 46414540 c.147G>A p.M49I missense 0.00000824●●●●●●
151. 46414740 c.347_349delTCT p.Phe118del inframe 0.00000824●●●●●●
152. 46414884 c.491T>C p.I164T missense 0.00000824●●●●●●
153. 46414761 c.368C>A p.T123K missense 0.00000824●●●●●●
154. 46414745 c.352T>C p.F118L missense 0.00000824●●●●●●
155. 46414673 c.280T>C p.W94R missense 0.00000824●●●●●●
156. 46414715 c.322T>C p.Y108H missense 0.00000824●●●●●●
157. 46415099 c.706C>A p.L236I missense 0.00000824●●●●●●
158. 46414611 c.218C>A p.A73D missense 0.00000824●●●●●●
159. 46414599 c.206T>C p.L69P missense 0.00000824●●●●●●
160. 46414804 c.411A>T p.L137F missense 0.00000824●●●●●●
161. 46414850 c.457T>G p.W153G missense 0.00000824●●●●●●
162. 46414724 c.331G>A p.G111S missense 0.00000824●●●●●●
163. 46415152 c.759T>G p.I253M missense 0.00000824●●●●●●
164. 46414653 c.260C>A p.A87D missense 0.00000824●●●●●●
165. 46414899 c.506C>A p.S169Y missense 0.00000824●●●●●●
166. 46414763 c.370A>G p.I124V missense 0.00000824●●●●●●
167. 46414679 c.286T>C p.F96L missense 0.00000824●●●●●●
168. 46415112 c.719T>A p.I240N missense 0.00000824●●●●●●
169. 46415109 c.716C>A p.T239N missense 0.00000824●●●●●●
170. 46414643 c.250C>T p.P84S missense 0.00000824●●●●●●
171. 46414554 c.161T>C p.I54T missense 0.00000824●●●●●●
172. 46414821 c.428C>A p.T143N missense 0.00000824●●●●●●
173. 46414730 c.337T>C p.F113L missense 0.00000824●●●●●●
174. 46414720 c.327T>G p.F109L missense 0.00000824●●●●●●
175. 46414487 c.94C>T p.L32F missense 0.00000824●●●●●●
176. 46414751 c.358A>C p.I120L missense 0.00000824●●●●●●
177. 46415153 c.760G>A p.V254I missense 0.00000824●●●●●●
178. 46415137 c.744G>T p.W248C missense 0.00000824●●●●●●
179. 46414667 c.274G>A p.A92T missense 0.00000824●●●●●●
180. 46414595 c.202T>A p.Y68N missense 0.00000824●●●●●●
181. 46414676 c.283G>A p.D95N missense 0.00000824●●●●●●
182. 46414768 c.375T>A p.D125E 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.