List of variants in gene RYR2 reported as likely pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)	rs564822776	0.00004
NM_001035.3(RYR2):c.7375G>A (p.Gly2459Arg)	rs1481363942	0.00002
NM_001035.3(RYR2):c.365G>A (p.Arg122His)	rs727503396	0.00001
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser)	rs1314129285	0.00001
NM_001035.2:c.(1708+1_1709-1)_(14904_?)del
NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly)	rs1553453324
NM_001035.3(RYR2):c.1153G>A (p.Gly385Arg)	rs1553453398
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)	rs1060500137
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn)	rs1553458124
NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly)
NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu)
NM_001035.3(RYR2):c.243G>A (p.Met81Ile)	rs1572627115
NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val)
NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn)	rs1688456281

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