ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance for Congenital myopathy with fiber type disproportion

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Total variants: 4
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HGVS dbSNP
NM_000540.2(RYR1):c.11687A>T (p.Asn3896Ile) rs1555793251
NM_000540.2(RYR1):c.2383C>T (p.Arg795Cys) rs547608972
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.8446A>G (p.Met2816Val) rs775492883

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