ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic by NeuroMeGen,Hospital Clinico Santiago de Compostela

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Total variants: 3
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NM_000540.2(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606
NM_000540.2(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.2(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969

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