List of variants in gene RYR1 reported as pathogenic by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170

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