ClinVar Miner

List of variants studied for Niemann-Pick disease, type A by Baylor Genetics

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ClinVar version:
Total variants: 127
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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.689G>A (p.Arg230His) rs141387770 0.00071
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
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.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.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.730G>A (p.Gly244Arg) rs120074122 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.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.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.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.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.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.106dup (p.Val36fs) rs1590735238
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) rs1590735307
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
NM_000543.5(SMPD1):c.1101del (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
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.1177T>G (p.Trp393Gly) rs120074125
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>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.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys) rs2134019797
NM_000543.5(SMPD1):c.1341-21_1341-18del
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.1431del (p.Leu478fs)
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
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.1565A>G (p.Asn522Ser)
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1605G>A (p.Trp535Ter)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs) rs1554935600
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter) rs2134006149
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
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.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
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.436del (p.Glu146fs)
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) rs1554934193
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.596_597del (p.Pro199fs)
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
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.742G>T (p.Glu248Ter) rs200763423
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.7del (p.Arg3fs) rs281860663
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.867del (p.Thr290fs)
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.874C>T (p.Gln292Ter)
NM_000543.5(SMPD1):c.945C>A (p.Tyr315Ter)
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.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289

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