List of variants in gene RYR1 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	rs193922764	0.00002
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	rs193922839	0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	rs193922803	0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	rs121918594	0.00001
NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val)	rs193922843
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	rs118192161
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	rs118192176
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396

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