ClinVar Miner

List of variants reported as likely pathogenic for Sphingomyelin/cholesterol lipidosis

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Total variants: 15
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HGVS dbSNP
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1341-1G>T rs1057516854
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
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.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804

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