ClinVar Miner

List of variants reported as pathogenic for Neuromuscular disease, congenital, with uniform type 1 fiber by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr) rs118192171

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