List of variants in gene RYR2 reported as pathogenic by OMIM

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu)	rs2149352030
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys)	rs121918599
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	rs121918602
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	rs121918600
NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala)	rs1658967336
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	rs121918604
NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly)	rs121918606
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)	rs121918597
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)	rs121918603
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)	rs121918601
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser)	rs121918598

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