ClinVar Miner

List of variants in gene RYR1 reported as pathogenic for Muscular Diseases

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Total variants: 4
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HGVS dbSNP
NM_000540.2(RYR1):c.1878_1882del (p.Pro626_Gly627insTer) rs797045931
NM_000540.2(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.2(RYR1):c.3381+1G>A rs797045934
NM_000540.2(RYR1):c.8724C>A (p.Tyr2908Ter) rs797045935

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