ClinVar Miner

List of variants studied for Niemann-Pick disease, type A by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506

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