ClinVar Miner

List of variants reported as pathogenic for Malignant hyperthermia, susceptibility to, 1 by All of Us Research Program, National Institutes of Health

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
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.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000540.3(RYR1):c.103T>C (p.Cys35Arg) rs193922747 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868

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