ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease, type B; Niemann-Pick disease, type A by Invitae

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ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys) rs143719170 0.00007
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His) rs189116118 0.00006
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys) rs570674743 0.00005
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His) rs148892841 0.00004
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His) rs750345585 0.00004
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00004
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr) rs369566518 0.00004
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser) rs761144309 0.00003
NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg) rs538153468 0.00003
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser) rs142476839 0.00003
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr) rs144624998 0.00001
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1637_1639dup (p.Gly546_Leu547insArg) rs776759986 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1681C>T (p.Arg561Cys) rs774190691 0.00001
NM_000543.5(SMPD1):c.1747T>G (p.Ser583Ala) rs748635475 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys) rs749595299 0.00001
NM_000543.5(SMPD1):c.692G>A (p.Arg231Gln) rs746421946 0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr) rs748936934 0.00001
NM_000543.5(SMPD1):c.820A>G (p.Met274Val) rs763437061 0.00001
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala) rs771028947
NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)
NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu) rs71467507
NM_000543.5(SMPD1):c.113C>T (p.Ala38Val) rs71467507
NM_000543.5(SMPD1):c.1168G>C (p.Glu390Gln)
NM_000543.5(SMPD1):c.1201C>G (p.Pro401Ala)
NM_000543.5(SMPD1):c.1204G>A (p.Ala402Thr)
NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)
NM_000543.5(SMPD1):c.1328G>C (p.Arg443Pro) rs377609894
NM_000543.5(SMPD1):c.1328G>T (p.Arg443Leu) rs377609894
NM_000543.5(SMPD1):c.1333G>A (p.Val445Ile)
NM_000543.5(SMPD1):c.1354C>G (p.Leu452Val) rs2134021009
NM_000543.5(SMPD1):c.1410T>A (p.Asp470Glu)
NM_000543.5(SMPD1):c.1474G>C (p.Gly492Arg)
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly) rs2134023371
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
NM_000543.5(SMPD1):c.164T>A (p.Leu55His)
NM_000543.5(SMPD1):c.1666C>T (p.His556Tyr)
NM_000543.5(SMPD1):c.1688G>A (p.Arg563Gln)
NM_000543.5(SMPD1):c.1693G>A (p.Asp565Asn)
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1720T>G (p.Phe574Val)
NM_000543.5(SMPD1):c.1729C>T (p.His577Tyr)
NM_000543.5(SMPD1):c.1763C>A (p.Thr588Lys)
NM_000543.5(SMPD1):c.1881G>T (p.Arg627Ser)
NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)
NM_000543.5(SMPD1):c.277A>G (p.Ile93Val) rs913533196
NM_000543.5(SMPD1):c.299C>A (p.Ala100Asp) rs2134006790
NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)
NM_000543.5(SMPD1):c.380T>C (p.Ile127Thr) rs1847903513
NM_000543.5(SMPD1):c.439G>A (p.Val147Met) rs936971458
NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)
NM_000543.5(SMPD1):c.536C>T (p.Ser179Phe) rs1215635747
NM_000543.5(SMPD1):c.544A>G (p.Thr182Ala)
NM_000543.5(SMPD1):c.569C>T (p.Pro190Leu)
NM_000543.5(SMPD1):c.580C>T (p.Pro194Ser)
NM_000543.5(SMPD1):c.661C>A (p.Pro221Thr) rs2134010893
NM_000543.5(SMPD1):c.691C>T (p.Arg231Trp)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.767T>C (p.Leu256Pro)
NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)
NM_000543.5(SMPD1):c.833C>T (p.Thr278Ile)
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.890C>T (p.Ala297Val)
NM_000543.5(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer) rs398123480

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