ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease, type A

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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_000543.5(SMPD1):c.*83A>G rs138499616 0.00115
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_000543.5(SMPD1):c.*272G>C rs528743699 0.00102
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_000543.5(SMPD1):c.1340+12A>T rs140221837 0.00069
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser) rs202244080 0.00014
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000543.5(SMPD1):c.1081C>T (p.Arg361Cys) rs370198638 0.00009
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.1335A>G (p.Val445=) rs769400504 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
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.1599G>A (p.Pro533=) rs552841217 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.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser) rs761144309 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser) rs142476839 0.00003
NM_000543.5(SMPD1):c.1340+8G>A rs373742012 0.00002
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe) rs1345053174 0.00002
NM_000543.5(SMPD1):c.329A>G (p.Asn110Ser) rs747223735 0.00002
NM_000543.5(SMPD1):c.*183T>G rs886048448 0.00001
NM_000543.5(SMPD1):c.-39A>T rs767402489 0.00001
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu) rs772473982 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475 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.1486G>A (p.Gly496Ser) rs1554935371 0.00001
NM_000543.5(SMPD1):c.1517A>G (p.Tyr506Cys) rs774651673 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1698G>T (p.Met566Ile) rs757364674 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.291A>G (p.Leu97=) rs144428799 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr) rs748936934 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000543.5(SMPD1):c.986T>G (p.Phe329Cys) rs886048446 0.00001
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro) rs1299899778
NM_000543.5(SMPD1):c.1244C>T (p.Ala415Val)
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del) rs1554933847
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9]) rs1554933850
NM_000543.5(SMPD1):c.1390G>T (p.Glu464Ter)
NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del) rs1382534368
NM_000543.5(SMPD1):c.1486+6_1486+9del rs1389809925
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=) rs886048447
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu) rs149939736
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn) rs747342458
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg) rs1554935731
NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe) rs138531908
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn) rs2134024509
NM_000543.5(SMPD1):c.1829G>T (p.Arg610Leu) rs140269316
NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.394G>A (p.Val132Met) rs189859589
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.610C>T (p.Leu204Phe) rs1690892137
NM_000543.5(SMPD1):c.66C>T (p.Asp22=) rs886048444
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.734A>C (p.Tyr245Ser) rs1847928024
NM_000543.5(SMPD1):c.858C>A (p.Val286=) rs1194457629
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.879C>T (p.Asp293=) rs886048445
NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del) rs1554934457
NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup) rs1554934463
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954

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