CAV3 protein-altering variants in ExAC

CAV3 gene summary
CAV3 variants in DCM

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 frequency▼Populations*
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. 8787497 c.400G>A p.A134T missense 0.00001649●●●●●●
16. 8787498 c.401C>T p.A134V missense 0.00001649●●●●●●
17. 8787410 c.313C>T p.P105S 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. 8787317 c.220C>T p.R74C missense 0.00000828●●●●●●
25. 8787330 c.233C>A p.T78K 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.