ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease, type B; Niemann-Pick disease, type A

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Total variants: 9
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HGVS dbSNP
NM_000543.4(SMPD1):c.1426C>T rs182812968
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479

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