ClinVar Miner

List of variants in gene RYR1 studied for Myopathy, RYR1-associated

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Total variants: 4
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HGVS dbSNP
NM_000540.2(RYR1):c.1627T>G (p.Leu543Val)
NM_000540.2(RYR1):c.2275A>G (p.Asn759Asp) rs147320363
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475

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