ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
NM_000543.5(SMPD1):c.1788T>A (p.Cys596Ter)
NM_000543.5(SMPD1):c.734_739del (p.Tyr245_Gly247delinsCys)

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