ClinVar Miner

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

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ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) rs760203204 0.00006
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr) rs752148586 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.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) rs761308217 0.00001
NC_000011.10:g.6390221_6390884del
NC_000011.9:g.(?_6404342)_(6413015_?)del
NM_000543.5(SMPD1):c.1011_1012del (p.Asn337fs)
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter) rs2134013121
NM_000543.5(SMPD1):c.103_107del (p.Leu35fs)
NM_000543.5(SMPD1):c.106dup (p.Val36fs) rs1590735238
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) rs797044800
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg) rs2134013368
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) rs1590743683
NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) rs1847863441
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser) rs1342372980
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) rs1848015403
NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)
NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter) rs2134017711
NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)
NM_000543.5(SMPD1):c.1222_1225dup (p.Val409fs)
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
NM_000543.5(SMPD1):c.1271_1272del (p.Ile424fs)
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1304dup (p.Ser436fs)
NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) rs1848043657
NM_000543.5(SMPD1):c.1312dup (p.Ser438fs)
NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)
NM_000543.5(SMPD1):c.1345_1348dup (p.Asn450fs)
NM_000543.5(SMPD1):c.1354dup (p.Leu452fs)
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter) rs2134021058
NM_000543.5(SMPD1):c.1380del (p.His461fs) rs1848061158
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) rs748411156
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1486+1G>T
NM_000543.5(SMPD1):c.1487-4_1499del
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)
NM_000543.5(SMPD1):c.156dup (p.Arg53fs)
NM_000543.5(SMPD1):c.1576del (p.Ala526fs) rs2134023240
NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs) rs1848086376
NM_000543.5(SMPD1):c.1589del (p.Gly530fs)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs) rs2134023663
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) rs875989836
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter) rs2134006149
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1792C>T (p.Gln598Ter)
NM_000543.5(SMPD1):c.1822_1825dup (p.Cys609fs)
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.193dup (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.208_227del (p.Pro70fs) rs2134006350
NM_000543.5(SMPD1):c.248del (p.Val83fs)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.301del (p.Ile101fs)
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.358_370dup (p.Leu124fs)
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.43del (p.Ser15fs) rs2134004628
NM_000543.5(SMPD1):c.477_483dup (p.Leu162fs) rs2134009391
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) rs1554934193
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.564del (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.564dup (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.572del (p.Pro191fs) rs1590738506
NM_000543.5(SMPD1):c.580_587dup (p.Gly197fs) rs2134010245
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.625del (p.Leu209fs) rs1847921591
NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) rs1847925196
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
NM_000543.5(SMPD1):c.740del (p.Gly247fs)
NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln) rs200763423
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter) rs200763423
NM_000543.5(SMPD1):c.766_767del (p.Leu256fs)
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) rs120074120
NM_000543.5(SMPD1):c.7del (p.Arg3fs) rs281860663
NM_000543.5(SMPD1):c.807del (p.Gly270fs)
NM_000543.5(SMPD1):c.820del (p.Met274fs) rs2134011809
NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala) rs1847935299
NM_000543.5(SMPD1):c.842_849dup (p.His284fs) rs281860677
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)
NM_000543.5(SMPD1):c.921del (p.Lys307fs)
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289

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