RYR2 truncating variants in ExAC

RYR2 gene summary
RYR2 variants in DCM

The table below lists the RYR2 truncating 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. 237540664 c.505C>T p.R169X nonsense 0.00000834●●●●●●
2. 237540668 c.509C>G p.S170X nonsense 0.00000833●●●●●●
3. 237580424 c.848+1G>A essential splice site 0.00001688●●●●●●
4. 237586394 c.851G>A p.W284X nonsense 0.00001660●●●●●●
5. 237586550 c.1005+2T>C essential splice site 0.00000873●●●●●●
6. 237617789 c.1391_1392insC p.Asp467ArgfsTer2 frameshift 0.00000831●●●●●●
7. 237632450 c.1671G>A p.W557X nonsense 0.00000830●●●●●●
8. 237632489 c.1708+2T>C essential splice site 0.00000839●●●●●●
9. 237666611 c.2419C>T p.R807X nonsense 0.00001292●●●●●●
10. 237711864 c.3040C>T p.Q1014X nonsense 0.00000831●●●●●●
11. 237729908 c.3256C>T p.R1086X nonsense 0.00000829●●●●●●
12. 237755056 c.4178delC p.Thr1393LysfsTer28 frameshift 0.00004822●●●●●●
13. 237774123 c.4745_4746insC p.Arg1585AlafsTer29 frameshift 0.00003192●●●●●●
14. 237774165 c.4787G>A p.W1596X nonsense 0.00000933●●●●●●
15. 237777663 c.5235_5236delAC p.His1746ArgfsTer26 frameshift 0.00000829●●●●●●
16. 237778027 c.5599G>T p.Glu1867Ter nonsense 0.00000835●●●●●●
17. 237802461 c.7075C>T p.Arg2359Ter nonsense 0.00000839●●●●●●
18. 237831260 c.8590+2T>C essential splice site 0.00003723●●●●●●
19. 237837394 c.8591-2_8591delAGG essential splice site 0.00001668●●●●●●
20. 237838074 c.8758C>T p.R2920X nonsense 0.00000853●●●●●●
21. 237838147 c.8830+1G>A essential splice site 0.00000938●●●●●●
22. 237870571 c.9901+2T>G essential splice site 0.00002193●●●●●●
23. 237875051 c.10237_10238delAA p.Glu3415ArgfsTer9 frameshift 0.00001561●●●●●●
24. 237875133 c.10319C>G p.S3440X nonsense 0.00001255●●●●●●
25. 237881783 c.10516C>T p.R3506X nonsense 0.00000835●●●●●●
26. 237889602 c.10719_10720delCT p.Y3573*fs*1 frameshift 0.00002007●●●●●●
27. 237895388 c.10978delA p.Arg3660GlufsTer8 frameshift 0.00000830●●●●●●
28. 237946973 c.11963-2A>G essential splice site 0.00001216●●●●●●
29. 237947740 c.12728C>A p.S4243X nonsense 0.00000843●●●●●●
30. 237947781 c.12769C>T p.R4257X nonsense 0.00001695●●●●●●
31. 237947873 c.12861C>A p.Tyr4287Ter nonsense 0.00000833●●●●●●
32. 237954728 c.13477-1G>C essential splice site 0.00003161●●●●●●
33. 237955468 c.13627A>T p.K4543X nonsense 0.00001113●●●●●●
34. 237955482 c.13641delG p.Asp4548ThrfsTer14 frameshift 0.00000989●●●●●●
35. 237965217 c.14151+1G>A essential splice site 0.00000849●●●●●●
36. 237969494 c.14209dupT p.Ala4740CysfsTer56 frameshift 0.00009655●●●●●●
37. 237993931 c.14756+1G>A essential splice site 0.00000833●●●●●●
38. 237994814 c.14757_14758insT p.Leu4922SerfsTer9 frameshift 0.00000896●●●●●●
39. 237995945 c.14902_14903insAA frameshift 0.00000880●●●●●●

* 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.