List of variants in gene LOC126806068, RYR2 studied for Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)	rs775477470	0.00004
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)	rs758453646	0.00004
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)	rs750117613	0.00004
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln)	rs903232857	0.00004
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)	rs1386632671	0.00002
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)	rs1178157004	0.00001
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)	rs371396204	0.00001
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)	rs769146715	0.00001
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg)	rs1361307283	0.00001
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys)	rs1298823746
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)	rs1060500135
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)	rs794728838
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter)	rs570414987

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.