ClinVar Miner

List of variants reported as likely pathogenic for Malignant hyperthermia, susceptibility to, 1

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Total variants: 5
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NM_000540.2(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397

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