CAV3 protein-altering variants in ExAC


The table below lists the CAV3 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 8787341 c.244G>A p.V82I missense 0.00005795
2. 8787497 c.400G>C p.A134P missense 0.00005770
3. 8787222 c.125A>C p.E42A missense 0.00004976
4. 8787374 c.277G>T p.A93S missense 0.00004133
5. 8775590 c.28G>A p.E10K missense 0.00003359
6. 8787360 c.263delG p.Gly89AlafsTer23 frameshift 0.00003308
7. 8787318 c.221G>A p.R74H missense 0.00003308
8. 8775651 c.89A>G p.K30R missense 0.00002503
9. 8775617 c.55T>C p.C19R missense 0.00002501
10. 8787552 c.455A>G nonsense 0.00001674
11. 8787548 c.451G>A p.V151I missense 0.00001670
12. 8775627 c.65T>C p.I22T missense 0.00001666
13. 8787266 c.169G>A p.V57M missense 0.00001653
14. 8787513 c.416T>C p.V139A missense 0.00001650
15. 8787498 c.401C>T p.A134V missense 0.00001649
16. 8787410 c.313C>T p.P105S missense 0.00001649
17. 8787497 c.400G>A p.A134T missense 0.00001649
18. 8775671 c.109G>C p.V37L missense 0.00000858
19. 8775668 c.106A>G p.I36V missense 0.00000852
20. 8775662 c.100G>A p.E34K missense 0.00000846
21. 8787210 c.115-2A>T essential splice site 0.00000835
22. 8787542 c.445A>C p.K149Q missense 0.00000833
23. 8787226 c.129C>A p.D43E missense 0.00000829
24. 8787330 c.233C>A p.T78K missense 0.00000828
25. 8787317 c.220C>T p.R74C missense 0.00000828
26. 8787262 c.165delC p.Asp55GlufsTer6 frameshift 0.00000827
27. 8787357 c.260T>A p.L87H missense 0.00000827
28. 8787260 c.163G>T p.D55Y missense 0.00000827
29. 8787357 c.260T>C p.L87P missense 0.00000827
30. 8787324 c.227T>G p.L76W missense 0.00000827
31. 8787339 c.242G>A p.G81D missense 0.00000827
32. 8787308 c.211T>C p.W71R missense 0.00000827
33. 8787257 c.160T>G p.F54V missense 0.00000827
34. 8787356 c.259C>T p.L87F missense 0.00000827
35. 8787282 c.185A>G p.Y62C missense 0.00000826
36. 8787404 c.307G>A p.V103M missense 0.00000825
37. 8787413 c.316T>C p.C106R missense 0.00000824
38. 8787442 c.345G>C p.Q115H missense 0.00000824
39. 8787497 c.400G>T p.A134S missense 0.00000824
40. 8787473 c.376C>T p.R126C missense 0.00000824
41. 8787498 c.401C>A p.A134E 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.