List of variants in gene RYR1 reported as pathogenic by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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: 5

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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.7063C>T (p.Arg2355Trp)	rs193922803	0.00002
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)	rs193922867	0.00001
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)	rs199895006
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869

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