CETP variants in ExAC

CETP gene summary
CETP variants in

The table below lists the CETP 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. 57016092 c.1264G>A p.V422I missense 0.61647629●●●●●●
2. 57005301 c.658+8C>T splice site 0.39590269●●●●●●
3. 57015091 c.1168G>C p.A390P missense 0.05084704●●●●●●
4. 57017319 c.1403G>A p.R468Q missense 0.03525002●●●●●●
5. 56995935 c.44C>G p.A15G missense 0.00654152●●●●●●
6. 57005908 c.663C>A p.S221R missense 0.00307517●●●●●●
7. 57003846 c.460C>T p.R154W missense 0.00244043●●●●●●
8. 57017292 c.1376A>G p.D459G missense 0.00238903●●●●●●
9. 57003604 c.439+11A>C splice site 0.00211595●●●●●●
10. 57015076 c.1153G>A p.V385M missense 0.00103799●●●●●●
11. 57012174 c.1146+7C>T splice site 0.00099756●●●●●●
12. 57003818 c.440-8C>G splice site 0.00048676●●●●●●
13. 57012012 c.991G>A p.G331S missense 0.00048637●●●●●●
14. 57009022 c.940G>A p.E314K missense 0.00048604●●●●●●
15. 57012067 c.1046C>A p.S349Y missense 0.00032946●●●●●●
16. 56996985 c.182C>T p.T61M missense 0.00023925●●●●●●
17. 56995908 c.17T>A p.V6D missense 0.00023170●●●●●●
18. 57017552 c.1456G>A p.V486M missense 0.00017297●●●●●●
19. 57003852 c.466G>A p.D156N missense 0.00015193●●●●●●
20. 57015140 c.1214+3A>G splice site 0.00014854●●●●●●
21. 57003829 c.443G>A p.C148Y missense 0.00013795●●●●●●
22. 56996010 c.118+1_118+4delGTAA essential splice site 0.00013236●●●●●●
23. 57012175 c.1146+8G>A splice site 0.00012368●●●●●●
24. 57012126 c.1105C>T p.R369C missense 0.00011531●●●●●●
25. 57017279 c.1363G>A p.V455M missense 0.00009886●●●●●●
26. 57015113 c.1190T>A p.L397H missense 0.00009067●●●●●●
27. 57007387 c.895C>T p.R299C missense 0.00009065●●●●●●
28. 57015085 c.1162G>A p.V388I missense 0.00009063●●●●●●
29. 57007361 c.869T>C p.L290P missense 0.00007415●●●●●●
30. 57007244 c.752G>T p.G251V missense 0.00006600●●●●●●
31. 57007280 c.788C>A p.P263H missense 0.00006591●●●●●●
32. 57012039 c.1018G>A p.V340I missense 0.00006590●●●●●●
33. 57003551 c.397G>A p.E133K missense 0.00005767●●●●●●
34. 57007295 c.803C>T p.S268L missense 0.00005767●●●●●●
35. 57003910 c.524G>A p.R175Q missense 0.00005399●●●●●●
36. 57006000 c.750+5G>T splice site 0.00004986●●●●●●
37. 56995980 c.89G>A p.C30Y missense 0.00004961●●●●●●
38. 56996937 c.134C>T p.A45V missense 0.00004959●●●●●●
39. 57007345 c.853C>T p.R285X nonsense 0.00004943●●●●●●
40. 57003515 c.369-8C>G splice site 0.00004942●●●●●●
41. 57003917 c.527+4A>G splice site 0.00004597●●●●●●
42. 56995964 c.73G>A p.E25K missense 0.00004135●●●●●●
43. 56996963 c.160C>T p.R54X nonsense 0.00004125●●●●●●
44. 57004979 c.562A>G p.I188V missense 0.00004123●●●●●●
45. 57015106 c.1183A>G p.K395E missense 0.00004120●●●●●●
46. 56997044 c.233+8G>A splice site 0.00003403●●●●●●
47. 57003858 c.472C>T p.P158S missense 0.00003372●●●●●●
48. 56996930 c.127G>A p.E43K missense 0.00003311●●●●●●
49. 56995959 c.68C>T p.S23L missense 0.00003308●●●●●●
50. 56995983 c.92G>A p.R31H missense 0.00003308●●●●●●
51. 57005978 c.733C>A p.L245M missense 0.00003306●●●●●●
52. 57005019 c.597+5G>A splice site 0.00003299●●●●●●
53. 57015115 c.1192T>G p.F398V missense 0.00003297●●●●●●
54. 57015552 c.1215-7A>G splice site 0.00003296●●●●●●
55. 57015557 c.1215-2A>G essential splice site 0.00003296●●●●●●
56. 57003557 c.403G>A p.D135N missense 0.00003296●●●●●●
57. 57016150 c.1321+1G>A essential splice site 0.00003296●●●●●●
58. 57015067 c.1147-3C>T splice site 0.00003295●●●●●●
59. 57012060 c.1039A>G p.K347E missense 0.00003295●●●●●●
60. 57009039 c.957C>A p.N319K missense 0.00003295●●●●●●
61. 57005272 c.637G>A p.D213N missense 0.00003295●●●●●●
62. 57017282 c.1366A>G p.S456G missense 0.00003295●●●●●●
63. 57005251 c.616G>A p.V206I missense 0.00003295●●●●●●
64. 57012094 c.1073A>G p.N358S missense 0.00003295●●●●●●
65. 57005279 c.644T>A p.V215D missense 0.00003295●●●●●●
66. 57003837 c.451G>A p.G151S missense 0.00002558●●●●●●
67. 56997043 c.233+7C>T splice site 0.00002550●●●●●●
68. 57003853 c.467A>T p.D156V missense 0.00002530●●●●●●
69. 56995963 c.72C>A p.H24Q missense 0.00002481●●●●●●
70. 56997003 c.200T>A p.M67K missense 0.00002479●●●●●●
71. 57005020 c.597+6T>G splice site 0.00002475●●●●●●
72. 57009071 c.981+8C>T splice site 0.00002474●●●●●●
73. 57016081 c.1253G>C p.S418T missense 0.00002474●●●●●●
74. 57007394 c.902T>C p.M301T missense 0.00002473●●●●●●
75. 57015588 c.1244C>T p.T415I missense 0.00002472●●●●●●
76. 57012087 c.1066G>A p.V356M missense 0.00002471●●●●●●
77. 57005300 c.658+7G>A splice site 0.00002471●●●●●●
78. 57012123 c.1102delC p.Pro368HisfsTer9 frameshift 0.00002471●●●●●●
79. 57007289 c.797C>G p.T266S missense 0.00002471●●●●●●
80. 57007318 c.826C>T p.R276C missense 0.00002471●●●●●●
81. 57017544 c.1448A>G p.H483R missense 0.00002471●●●●●●
82. 57003518 c.369-5T>C splice site 0.00002471●●●●●●
83. 57017318 c.1402C>T p.Arg468Ter nonsense 0.00002471●●●●●●
84. 57007304 c.812T>G p.L271R missense 0.00002471●●●●●●
85. 57003380 c.316G>A p.V106M missense 0.00002471●●●●●●
86. 57003323 c.259G>A p.A87T missense 0.00002471●●●●●●
87. 57012043 c.1022A>G p.H341R missense 0.00002471●●●●●●
88. 57003860 c.474delT p.Asp159ThrfsTer34 frameshift 0.00001686●●●●●●
89. 56997034 c.231C>T p.H77H splice site 0.00001676●●●●●●
90. 56997025 c.222T>G p.Y74X nonsense 0.00001661●●●●●●
91. 56995903 c.12_13delCA p.Thr5SerfsTer95 frameshift 0.00001656●●●●●●
92. 56996013 c.118+4A>C splice site 0.00001655●●●●●●
93. 56996000 c.109C>T p.L37F missense 0.00001654●●●●●●
94. 56996006 c.115G>T p.V39L missense 0.00001654●●●●●●
95. 56997000 c.197T>C p.M66T missense 0.00001652●●●●●●
96. 56996996 c.193G>C p.A65P missense 0.00001651●●●●●●
97. 56996990 c.187G>A p.E63K missense 0.00001650●●●●●●
98. 56996954 c.151G>A p.A51T missense 0.00001650●●●●●●
99. 57005960 c.715G>A p.V239I missense 0.00001650●●●●●●
100. 57017243 c.1327G>A p.E443K missense 0.00001649●●●●●●
101. 57004995 c.578A>T p.K193M missense 0.00001649●●●●●●
102. 57012009 c.988G>A p.G330S missense 0.00001649●●●●●●
103. 57005934 c.689T>C p.V230A missense 0.00001649●●●●●●
104. 57004961 c.544C>T p.Q182X nonsense 0.00001649●●●●●●
105. 57012154 c.1133A>G p.Y378C missense 0.00001648●●●●●●
106. 57005225 c.598-8T>C splice site 0.00001648●●●●●●
107. 57015107 c.1184A>G p.K395R missense 0.00001648●●●●●●
108. 57007325 c.833T>G p.L278R missense 0.00001648●●●●●●
109. 57007270 c.778G>T p.E260X nonsense 0.00001648●●●●●●
110. 57016145 c.1317G>A p.M439I missense 0.00001648●●●●●●
111. 57016148 c.1320_1321insCGTAAGTG p.Leu442LysfsTer6 frameshift 0.00001648●●●●●●
112. 57009049 c.967G>T p.E323X nonsense 0.00001648●●●●●●
113. 57003545 c.391G>A p.D131N missense 0.00001648●●●●●●
114. 57015098 c.1175A>G p.Y392C missense 0.00001648●●●●●●
115. 57007364 c.872C>A p.A291D missense 0.00001648●●●●●●
116. 57016117 c.1289T>C p.I430T missense 0.00001648●●●●●●
117. 57015564 c.1220C>T p.T407I missense 0.00001648●●●●●●
118. 57016149 c.1321C>T p.R441W missense 0.00001648●●●●●●
119. 57015588 c.1244C>G p.T415S missense 0.00001648●●●●●●
120. 57007283 c.791delT p.L264Pfs*30 frameshift 0.00001648●●●●●●
121. 57007351 c.859T>G p.F287V missense 0.00001648●●●●●●
122. 57005296 c.658+3G>A splice site 0.00001648●●●●●●
123. 57012028 c.1007C>G p.A336G missense 0.00001648●●●●●●
124. 57016155 c.1321+6T>C splice site 0.00001648●●●●●●
125. 57007310 c.818G>A p.G273E missense 0.00001647●●●●●●
126. 57012039 c.1018G>C p.V340L missense 0.00001647●●●●●●
127. 57005254 c.619A>G p.I207V missense 0.00001647●●●●●●
128. 57017514 c.1418T>A p.L473Q missense 0.00001647●●●●●●
129. 57012134 c.1113C>A p.D371E missense 0.00001647●●●●●●
130. 57017578 c.1482G>T p.Ter494TyrextTer11 nonsense 0.00001647●●●●●●
131. 57003323 c.259G>T p.A87S missense 0.00001647●●●●●●
132. 57003402 c.338C>T p.T113I missense 0.00001647●●●●●●
133. 57003913 c.527A>G p.E176G missense 0.00000908●●●●●●
134. 57003819 c.440-7C>T splice site 0.00000883●●●●●●
135. 57003821 c.440-5T>C splice site 0.00000879●●●●●●
136. 57003823 c.440-3C>A splice site 0.00000874●●●●●●
137. 57003823 c.440-3C>T splice site 0.00000874●●●●●●
138. 57003897 c.511C>T p.L171F missense 0.00000870●●●●●●
139. 57003829 c.443G>C p.C148S missense 0.00000862●●●●●●
140. 57003879 c.493C>T p.H165Y missense 0.00000850●●●●●●
141. 57003847 c.461G>C p.R154P missense 0.00000846●●●●●●
142. 57003848 c.462_465delGACC p.Thr155MetfsTer37 frameshift 0.00000846●●●●●●
143. 57003865 c.479G>T p.C160F missense 0.00000844●●●●●●
144. 57003866 c.480_483delCTAC p.Tyr161CysfsTer31 frameshift 0.00000844●●●●●●
145. 56997026 c.223G>C p.G75R missense 0.00000831●●●●●●
146. 56996918 c.119-4C>G splice site 0.00000831●●●●●●
147. 56996921 c.119-1G>A essential splice site 0.00000830●●●●●●
148. 56995905 c.14C>A p.T5K missense 0.00000828●●●●●●
149. 56997017 c.214G>A p.V72I missense 0.00000828●●●●●●
150. 56996008 c.117G>A splice site 0.00000827●●●●●●
151. 56995982 c.91C>T p.R31C missense 0.00000827●●●●●●
152. 56995973 c.82A>G p.I28V missense 0.00000827●●●●●●
153. 56995976 c.85G>A p.V29M missense 0.00000827●●●●●●
154. 56995935 c.44C>A p.A15D missense 0.00000827●●●●●●
155. 56996004 c.113T>C p.L38P missense 0.00000827●●●●●●
156. 56997000 c.197T>A p.M66K missense 0.00000826●●●●●●
157. 56996939 c.136A>G p.K46E missense 0.00000826●●●●●●
158. 56996942 c.139G>A p.V47M missense 0.00000826●●●●●●
159. 57012003 c.982G>A p.V328I missense 0.00000826●●●●●●
160. 57015145 c.1214+8C>T splice site 0.00000826●●●●●●
161. 57005973 c.728C>T p.S243F missense 0.00000826●●●●●●
162. 56996999 c.196A>G p.M66V missense 0.00000826●●●●●●
163. 57004987 c.570delC p.Phe190LeufsTer3 frameshift 0.00000825●●●●●●
164. 57012007 c.986T>C p.V329A missense 0.00000825●●●●●●
165. 57007247 c.755A>G p.H252R missense 0.00000825●●●●●●
166. 57007243 c.751G>T p.G251C missense 0.00000825●●●●●●
167. 57007413 c.921C>G p.D307E missense 0.00000825●●●●●●
168. 56996959 c.156C>G p.F52L missense 0.00000825●●●●●●
169. 57009070 c.981+7G>T splice site 0.00000825●●●●●●
170. 57004945 c.528G>T p.E176D missense 0.00000825●●●●●●
171. 57005015 c.597+1G>T essential splice site 0.00000825●●●●●●
172. 56996993 c.190A>G p.K64E missense 0.00000825●●●●●●
173. 57015138 c.1214+1G>A essential splice site 0.00000825●●●●●●
174. 57004949 c.532G>A p.G178R missense 0.00000825●●●●●●
175. 57007414 c.922G>A p.E308K missense 0.00000825●●●●●●
176. 57007239 c.751-4C>T splice site 0.00000825●●●●●●
177. 56996964 c.161G>A p.R54Q missense 0.00000825●●●●●●
178. 57004955 c.538A>T p.I180F missense 0.00000825●●●●●●
179. 57005006 c.589A>G p.K197E missense 0.00000825●●●●●●
180. 57005948 c.703A>T p.T235S missense 0.00000825●●●●●●
181. 56996967 c.164delC p.Ser56AlafsTer11 frameshift 0.00000825●●●●●●
182. 56996962 c.159G>T p.Q53H missense 0.00000825●●●●●●
183. 57007430 c.930+8G>A splice site 0.00000825●●●●●●
184. 57005298 c.658+5G>T splice site 0.00000824●●●●●●
185. 57015071 c.1148A>T p.D383V missense 0.00000824●●●●●●
186. 57015593 c.1248+1G>A essential splice site 0.00000824●●●●●●
187. 57005911 c.666delC p.Leu223PhefsTer12 frameshift 0.00000824●●●●●●
188. 57003554 c.400A>T p.I134F missense 0.00000824●●●●●●
189. 57003303 c.239A>G p.Q80R missense 0.00000824●●●●●●
190. 57017528 c.1432T>C p.F478L missense 0.00000824●●●●●●
191. 57007355 c.863A>G p.H288R missense 0.00000824●●●●●●
192. 57003341 c.277C>G p.L93V missense 0.00000824●●●●●●
193. 57003320 c.256A>G p.I86V missense 0.00000824●●●●●●
194. 57005228 c.598-5C>T splice site 0.00000824●●●●●●
195. 57016114 c.1286T>A p.M429K missense 0.00000824●●●●●●
196. 57003439 c.368+7A>C splice site 0.00000824●●●●●●
197. 57005251 c.616G>C p.V206L missense 0.00000824●●●●●●
198. 57012103 c.1082T>C p.V361A missense 0.00000824●●●●●●
199. 57003419 c.355A>G p.T119A missense 0.00000824●●●●●●
200. 57017328 c.1407+5G>A splice site 0.00000824●●●●●●
201. 57016157 c.1321+8T>C splice site 0.00000824●●●●●●
202. 57003537 c.383A>C p.Q128P missense 0.00000824●●●●●●
203. 57017314 c.1398C>G p.I466M missense 0.00000824●●●●●●
204. 57007319 c.827G>C p.R276P missense 0.00000824●●●●●●
205. 57007293 c.801C>G p.F267L missense 0.00000824●●●●●●
206. 57016107 c.1279C>T p.Q427X nonsense 0.00000824●●●●●●
207. 57005943 c.698C>T p.S233F missense 0.00000824●●●●●●
208. 57015582 c.1238A>G p.N413S missense 0.00000824●●●●●●
209. 57005913 c.668T>G p.L223R missense 0.00000824●●●●●●
210. 57012091 c.1070T>G p.V357G missense 0.00000824●●●●●●
211. 57015065 c.1147-5C>T splice site 0.00000824●●●●●●
212. 57015073 c.1150A>G p.I384V missense 0.00000824●●●●●●
213. 57007306 c.814_815insT p.Asp274GlyfsTer11 frameshift 0.00000824●●●●●●
214. 57012018 c.997C>T p.P333S missense 0.00000824●●●●●●
215. 57003583 c.429C>A p.N143K missense 0.00000824●●●●●●
216. 57015553 c.1215-6_1215-5delTT splice site 0.00000824●●●●●●
217. 57007382 c.890A>G p.D297G missense 0.00000824●●●●●●
218. 57003345 c.281T>C p.V94A missense 0.00000824●●●●●●
219. 57005249 c.614A>G p.N205S missense 0.00000824●●●●●●
220. 57005230 c.598-3C>T splice site 0.00000824●●●●●●
221. 57016116 c.1288A>G p.I430V missense 0.00000824●●●●●●
222. 57017506 c.1410C>T p.G470G splice site 0.00000824●●●●●●
223. 57015116 c.1193T>C p.F398S missense 0.00000824●●●●●●
224. 57009046 c.964C>T p.Gln322Ter nonsense 0.00000824●●●●●●
225. 57012127 c.1106G>A p.R369H missense 0.00000824●●●●●●
226. 57017239 c.1323G>A splice site 0.00000824●●●●●●
227. 57003528 c.374G>T p.G125V missense 0.00000824●●●●●●
228. 57003304 c.240G>C p.Q80H missense 0.00000824●●●●●●
229. 57015067 c.1147-3C>G splice site 0.00000824●●●●●●
230. 57007346 c.854G>A p.R285Q missense 0.00000824●●●●●●
231. 57016108 c.1280A>G p.Q427R missense 0.00000824●●●●●●
232. 57005925 c.680A>C p.D227A missense 0.00000824●●●●●●
233. 57017282 c.1366A>C p.S456R missense 0.00000824●●●●●●
234. 57012023 c.1002C>A p.S334R missense 0.00000824●●●●●●
235. 57007340 c.848delC p.Ser283LeufsTer11 frameshift 0.00000824●●●●●●
236. 57005236 c.601T>G p.C201G missense 0.00000824●●●●●●
237. 57015555 c.1215-4T>A splice site 0.00000824●●●●●●
238. 57017555 c.1459G>A p.D487N missense 0.00000824●●●●●●
239. 57007388 c.896G>A p.R299H missense 0.00000824●●●●●●
240. 57003375 c.311A>G p.Q104R missense 0.00000824●●●●●●
241. 57005928 c.683T>C p.I228T missense 0.00000824●●●●●●
242. 57017264 c.1348A>G p.M450V missense 0.00000824●●●●●●
243. 57003519 c.369-4C>T splice site 0.00000824●●●●●●
244. 57005268 c.633G>A p.M211I missense 0.00000824●●●●●●
245. 57003374 c.310C>T p.Q104X nonsense 0.00000824●●●●●●
246. 57015574 c.1230_1231delTG p.Val411PhefsTer5 frameshift 0.00000824●●●●●●
247. 57012075 c.1054A>T p.N352Y missense 0.00000824●●●●●●
248. 57005295 c.658+2T>C essential splice site 0.00000824●●●●●●
249. 57017326 c.1407+3G>A splice site 0.00000824●●●●●●
250. 57003545 c.391G>T p.D131Y missense 0.00000824●●●●●●
251. 57003536 c.382C>T p.Q128X nonsense 0.00000824●●●●●●
252. 57007286 c.794C>T p.P265L missense 0.00000824●●●●●●
253. 57017527 c.1431C>G p.D477E missense 0.00000824●●●●●●
254. 57003316 c.252G>C p.L84F missense 0.00000824●●●●●●
255. 57015066 c.1147-4C>A splice site 0.00000824●●●●●●
256. 57016113 c.1285A>G p.M429V missense 0.00000824●●●●●●
257. 57003438 c.368+6C>A splice site 0.00000824●●●●●●
258. 57015099 c.1176T>G p.Y392X nonsense 0.00000824●●●●●●
259. 57012057 c.1036C>A p.P346T missense 0.00000824●●●●●●
260. 57009012 c.931-1G>A essential splice site 0.00000824●●●●●●
261. 57012123 c.1102C>T p.P368S missense 0.00000824●●●●●●
262. 57009032 c.950G>A p.G317D missense 0.00000824●●●●●●
263. 57017266 c.1350G>C p.M450I missense 0.00000824●●●●●●
264. 57007312 c.820G>A p.D274N missense 0.00000824●●●●●●
265. 57016131 c.1303A>G p.I435V missense 0.00000824●●●●●●
266. 57007282 c.790C>G p.L264V missense 0.00000824●●●●●●
267. 57003537 c.383A>T p.Q128L missense 0.00000824●●●●●●
268. 57015566 c.1222C>A p.P408T missense 0.00000824●●●●●●
269. 57017266 c.1350G>A p.M450I missense 0.00000824●●●●●●
270. 57016086 c.1258G>A p.E420K missense 0.00000824●●●●●●
271. 57016105 c.1277T>A p.L426Q 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.