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: 47
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HGVS dbSNP
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr)
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly)
NM_000543.5(SMPD1):c.1091+1G>A
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp)
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp)
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr)
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg)
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly)
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His)
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.1518C>A (p.Tyr506Ter)
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr)
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile)
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg)
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)
NM_000543.5(SMPD1):c.1804del (p.Arg602fs)
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro)
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg)
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys)
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn)
NM_000543.5(SMPD1):c.634G>C (p.Asp212His)
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg)
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro)
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys)
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg)
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro)
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe)
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser)
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660

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