List of variants in gene RYR1 reported as pathogenic by 3billion

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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.1250T>C (p.Leu417Pro)	rs764262446	0.00004
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	rs1432807966	0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)	rs772978260	0.00001
NM_000540.3(RYR1):c.6517C>T (p.Gln2173Ter)	rs1486865637
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs)	rs749656679

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