ClinVar Miner

List of variants studied for Niemann-Pick disease, type A by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs) rs2134013240
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg) rs2134013368
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro) rs2134017039
NM_000543.5(SMPD1):c.1151del (p.Met384fs) rs2134017306
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His) rs2134017443
NM_000543.5(SMPD1):c.1341-10_1429dup rs1554935254
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr) rs2134021440
NM_000543.5(SMPD1):c.1487-1G>A rs2134022652
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1638del (p.Leu547fs) rs2134023610
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter) rs943865463
NM_000543.5(SMPD1):c.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.257G>A (p.Trp86Ter) rs2134006592
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.504dup (p.His169fs) rs2134009550
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg) rs1590738910
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs) rs2134012543
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly) rs2134012580

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