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