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. 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. 237969494 c.14209delT p.Phe4739LeufsTer15 frameshift 0.00220303●●●●●●
2. 237969494 c.14209dupT p.Ala4740CysfsTer56 frameshift 0.00009655●●●●●●
3. 237755056 c.4178delC p.Thr1393LysfsTer28 frameshift 0.00004822●●●●●●
4. 237831260 c.8590+2T>C essential splice site 0.00003723●●●●●●
5. 237774123 c.4745_4746insC p.Arg1585AlafsTer29 frameshift 0.00003192●●●●●●
6. 237954728 c.13477-1G>C essential splice site 0.00003161●●●●●●
7. 237870571 c.9901+2T>G essential splice site 0.00002193●●●●●●
8. 237889602 c.10719_10720delCT p.Y3573*fs*1 frameshift 0.00002007●●●●●●
9. 237947781 c.12769C>T p.R4257X nonsense 0.00001695●●●●●●
10. 237580424 c.848+1G>A essential splice site 0.00001688●●●●●●
11. 237837394 c.8591-2_8591delAGG essential splice site 0.00001668●●●●●●
12. 237586394 c.851G>A p.W284X nonsense 0.00001660●●●●●●
13. 237875051 c.10237_10238delAA p.Glu3415ArgfsTer9 frameshift 0.00001561●●●●●●
14. 237666611 c.2419C>T p.R807X nonsense 0.00001292●●●●●●
15. 237875133 c.10319C>G p.S3440X nonsense 0.00001255●●●●●●
16. 237946973 c.11963-2A>G essential splice site 0.00001216●●●●●●
17. 237955468 c.13627A>T p.K4543X nonsense 0.00001113●●●●●●
18. 237955482 c.13641delG p.Asp4548ThrfsTer14 frameshift 0.00000989●●●●●●
19. 237838147 c.8830+1G>A essential splice site 0.00000938●●●●●●
20. 237774165 c.4787G>A p.W1596X nonsense 0.00000933●●●●●●
21. 237994814 c.14757_14758insT p.Leu4922SerfsTer9 frameshift 0.00000896●●●●●●
22. 237995945 c.14902_14903insAA frameshift 0.00000880●●●●●●
23. 237586550 c.1005+2T>C essential splice site 0.00000873●●●●●●
24. 237838074 c.8758C>T p.R2920X nonsense 0.00000853●●●●●●
25. 237965217 c.14151+1G>A essential splice site 0.00000849●●●●●●
26. 237947740 c.12728C>A p.S4243X nonsense 0.00000843●●●●●●
27. 237632489 c.1708+2T>C essential splice site 0.00000839●●●●●●
28. 237802461 c.7075C>T p.Arg2359Ter nonsense 0.00000839●●●●●●
29. 237881783 c.10516C>T p.R3506X nonsense 0.00000835●●●●●●
30. 237778027 c.5599G>T p.Glu1867Ter nonsense 0.00000835●●●●●●
31. 237540664 c.505C>T p.R169X nonsense 0.00000834●●●●●●
32. 237993931 c.14756+1G>A essential splice site 0.00000833●●●●●●
33. 237540668 c.509C>G p.S170X nonsense 0.00000833●●●●●●
34. 237947873 c.12861C>A p.Tyr4287Ter nonsense 0.00000833●●●●●●
35. 237711864 c.3040C>T p.Q1014X nonsense 0.00000831●●●●●●
36. 237617789 c.1391_1392insC p.Asp467ArgfsTer2 frameshift 0.00000831●●●●●●
37. 237895388 c.10978delA p.Arg3660GlufsTer8 frameshift 0.00000830●●●●●●
38. 237632450 c.1671G>A p.W557X nonsense 0.00000830●●●●●●
39. 237729908 c.3256C>T p.R1086X nonsense 0.00000829●●●●●●
40. 237777663 c.5235_5236delAC p.His1746ArgfsTer26 frameshift 0.00000829●●●●●●

* 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.