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

* 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.