RYR1 inframe variants in ExAC

RYR1 gene summary
RYR1 variants in

The table below lists the RYR1 inframe 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. 39019604 c.11048_11050delAGG p.Q3683_E3684delinsQ inframe 0.00802260●●●●●●
2. 39055826 c.12852_12860delCACGGCGGC p.Thr4285_Ala4287del inframe 0.00320513●●●●●●
3. 38979934 c.5665_5667delGAG p.E1889del1 inframe 0.00084614●●●●●●
4. 38979895 c.5626_5628delGAG p.E1876del1 inframe 0.00047212●●●●●●
5. 39015999 c.10483_10485delAAG p.Lys3495del inframe 0.00022322●●●●●●
6. 39055752 c.12778_12783delGACGAG p.Glu4261_Asp4262del inframe 0.00019815●●●●●●
7. 39056202 c.13228_13248delGAGGGCGCTGGAGACGCCGCG p.Glu4410_Ala4416del inframe 0.00010862●●●●●●
8. 39019604 c.11048_11050dupAGG p.Glu3684dup inframe 0.00003784●●●●●●
9. 38939445 c.1114_1116delAAG p.K372del1 inframe 0.00003449●●●●●●
10. 39057576 c.13463_13464insGCCAGA p.Pro4488_Pro4489insProGlu inframe 0.00003295●●●●●●
11. 39019618 c.11062_11064delGAA p.Glu3688del inframe 0.00001985●●●●●●
12. 39057593 c.13480_13491delGAGCCGGAACCA p.E4494_P4497del4 inframe 0.00001708●●●●●●
13. 38979955 c.5686_5688delGAG p.Glu1896del inframe 0.00001668●●●●●●
14. 38997158 c.8664_8666delGAA p.Lys2891del inframe 0.00001654●●●●●●
15. 38993168 c.7636_7637insTGGCGC p.Met2546_Ala2547insAlaLeu inframe 0.00000944●●●●●●
16. 38976295 c.5000_5026delGCCTCTACCGCGCTGTGTGCGCCCTGG p.Leu1668_Gly1676del inframe 0.00000841●●●●●●
17. 39008021 c.9708_9710delGGA p.Glu3238del inframe 0.00000837●●●●●●
18. 38979889 c.5620_5622delGAA p.Glu1874del inframe 0.00000828●●●●●●
19. 39016058 c.10542_10544delGAA p.Lys3516del inframe 0.00000826●●●●●●
20. 39017667 c.10661_10663delACA p.Asn3556del inframe 0.00000825●●●●●●
21. 38924481 c.12_14delAGA p.Glu5del inframe 0.00000824●●●●●●

* 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.