ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease, type A

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ClinVar version:
Total variants: 141
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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.1133G>A (p.Arg378His) rs559088058 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.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
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.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) rs779528546 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 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.241C>T (p.Arg81Ter) rs868423827 0.00001
NM_000543.5(SMPD1):c.319-1G>A rs1352986086 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.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.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000543.4:c.777_778ins8
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) rs1590735307
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro) rs2134017039
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser) rs1342372980
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.114del (p.Leu39fs) rs886043098
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
NM_000543.5(SMPD1):c.1263+1G>A rs2134018090
NM_000543.5(SMPD1):c.1264-1G>C rs1057516454
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1280_1286del (p.His427fs)
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer) rs1057517390
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys) rs2134019797
NM_000543.5(SMPD1):c.1341-10_1429dup rs1554935254
NM_000543.5(SMPD1):c.1341-1G>T rs1057516854
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1373del (p.Gly458fs) rs1554935273
NM_000543.5(SMPD1):c.1379del (p.Thr460fs) rs1554935285
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.1429C>A (p.Pro477Thr) rs2134021440
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
NM_000543.5(SMPD1):c.1487-1G>A rs2134022652
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter) rs1554935439
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs) rs1057517200
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.1543del (p.Asp515fs)
NM_000543.5(SMPD1):c.1562T>G (p.Leu521Arg) rs1057517826
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg) rs1554935555
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter) rs756031857
NM_000543.5(SMPD1):c.1638del (p.Leu547fs) rs2134023610
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs) rs1554935600
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter) rs1554935610
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter) rs1057516722
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter) rs373940701
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1771del (p.Arg591fs)
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.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter) rs1057516931
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.318+2T>A rs1225462507
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.319-2A>G
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer) rs1057517086
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer) rs1554934210
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.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.596_597del (p.Pro199fs)
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs) rs1554934309
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_000543.5(SMPD1):c.679C>G (p.Leu227Val)
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) rs120074122
NM_000543.5(SMPD1):c.735C>G (p.Tyr245Ter)
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp) rs1590739350
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg) rs1423504237
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter) rs1554934406
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
NM_000543.5(SMPD1):c.874C>T (p.Gln292Ter)
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly) rs2134012580
NM_000543.5(SMPD1):c.950del (p.Ala317fs)
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.963del (p.His321fs)
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs) rs1057517345
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954

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