ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by Clinical Genetics Laboratory, Skane University Hospital Lund

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	rs794728696

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