ClinVar Miner

List of variants in gene RYR1 reported as pathogenic for Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy; Congenital myopathy with fiber type disproportion

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Total variants: 5
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HGVS dbSNP
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10348-6C>G rs193922837
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803

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