RYR2 truncating variants in ExAC


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