ClinVar Miner

List of variants reported for Niemann-Pick disease, type B by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1091+45A>G
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562

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