CETP truncating variants in ExAC

CETP gene summary
CETP variants in

The table below lists the CETP truncating 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. 56996010 c.118+1_118+4delGTAA essential splice site 0.00013236●●●●●●
2. 57007345 c.853C>T p.R285X nonsense 0.00004943●●●●●●
3. 56996963 c.160C>T p.R54X nonsense 0.00004125●●●●●●
4. 57015557 c.1215-2A>G essential splice site 0.00003296●●●●●●
5. 57016150 c.1321+1G>A essential splice site 0.00003296●●●●●●
6. 57012123 c.1102delC p.Pro368HisfsTer9 frameshift 0.00002471●●●●●●
7. 57017318 c.1402C>T p.Arg468Ter nonsense 0.00002471●●●●●●
8. 57003860 c.474delT p.Asp159ThrfsTer34 frameshift 0.00001686●●●●●●
9. 56997025 c.222T>G p.Y74X nonsense 0.00001661●●●●●●
10. 56995903 c.12_13delCA p.Thr5SerfsTer95 frameshift 0.00001656●●●●●●
11. 57004961 c.544C>T p.Q182X nonsense 0.00001649●●●●●●
12. 57009049 c.967G>T p.E323X nonsense 0.00001648●●●●●●
13. 57016148 c.1320_1321insCGTAAGTG p.Leu442LysfsTer6 frameshift 0.00001648●●●●●●
14. 57007283 c.791delT p.L264Pfs*30 frameshift 0.00001648●●●●●●
15. 57007270 c.778G>T p.E260X nonsense 0.00001648●●●●●●
16. 57017578 c.1482G>T p.Ter494TyrextTer11 nonsense 0.00001647●●●●●●
17. 57003848 c.462_465delGACC p.Thr155MetfsTer37 frameshift 0.00000846●●●●●●
18. 57003866 c.480_483delCTAC p.Tyr161CysfsTer31 frameshift 0.00000844●●●●●●
19. 56996921 c.119-1G>A essential splice site 0.00000830●●●●●●
20. 56996967 c.164delC p.Ser56AlafsTer11 frameshift 0.00000825●●●●●●
21. 57004987 c.570delC p.Phe190LeufsTer3 frameshift 0.00000825●●●●●●
22. 57015138 c.1214+1G>A essential splice site 0.00000825●●●●●●
23. 57005015 c.597+1G>T essential splice site 0.00000825●●●●●●
24. 57005911 c.666delC p.Leu223PhefsTer12 frameshift 0.00000824●●●●●●
25. 57007306 c.814_815insT p.Asp274GlyfsTer11 frameshift 0.00000824●●●●●●
26. 57015099 c.1176T>G p.Y392X nonsense 0.00000824●●●●●●
27. 57003374 c.310C>T p.Q104X nonsense 0.00000824●●●●●●
28. 57007340 c.848delC p.Ser283LeufsTer11 frameshift 0.00000824●●●●●●
29. 57003536 c.382C>T p.Q128X nonsense 0.00000824●●●●●●
30. 57015574 c.1230_1231delTG p.Val411PhefsTer5 frameshift 0.00000824●●●●●●
31. 57005295 c.658+2T>C essential splice site 0.00000824●●●●●●
32. 57016107 c.1279C>T p.Q427X nonsense 0.00000824●●●●●●
33. 57009012 c.931-1G>A essential splice site 0.00000824●●●●●●
34. 57009046 c.964C>T p.Gln322Ter nonsense 0.00000824●●●●●●
35. 57015593 c.1248+1G>A essential splice site 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.