ClinVar Miner

List of variants reported as uncertain significance for Sphingolipid activator protein 1 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.*122C>G rs113284884 0.00572
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00266
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00090
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649 0.00076
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00055
NM_002778.4(PSAP):c.577G>C (p.Asp193His) rs149305591 0.00039
NM_002778.4(PSAP):c.-28A>C rs375720661 0.00028
NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe) rs532242066 0.00024
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050 0.00022
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 0.00019
NM_002778.4(PSAP):c.*376A>G rs141906397 0.00016
NM_002778.4(PSAP):c.*737G>A rs147046509 0.00016
NM_002778.4(PSAP):c.1381G>A (p.Val461Met) rs138716613 0.00014
NM_002778.4(PSAP):c.902C>T (p.Pro301Leu) rs759402008 0.00014
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00013
NM_002778.4(PSAP):c.557G>A (p.Arg186His) rs138880818 0.00013
NM_002778.4(PSAP):c.*574G>C rs549402343 0.00010
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_002778.4(PSAP):c.577-10T>C rs185892516 0.00009
NM_002778.4(PSAP):c.637C>T (p.Arg213Trp) rs150521779 0.00009
NM_002778.4(PSAP):c.1106T>C (p.Leu369Pro) rs772105675 0.00008
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 0.00008
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002778.4(PSAP):c.*1008C>T rs537171961 0.00006
NM_002778.4(PSAP):c.*276G>A rs547409137 0.00006
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) rs749663645 0.00006
NM_002778.4(PSAP):c.1049C>T (p.Pro350Leu) rs201129306 0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) rs377024801 0.00006
NM_002778.4(PSAP):c.249+6C>T rs774663731 0.00006
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00006
NM_002778.4(PSAP):c.763A>G (p.Met255Val) rs773349568 0.00006
NM_002778.4(PSAP):c.865T>C (p.Ser289Pro) rs145404688 0.00006
NM_002778.4(PSAP):c.*596A>G rs965039324 0.00005
NM_002778.4(PSAP):c.-22G>C rs569841336 0.00005
NM_002778.4(PSAP):c.113C>T (p.Thr38Met) rs145181011 0.00005
NM_002778.4(PSAP):c.28C>T (p.Leu10Phe) rs779742363 0.00005
NM_002778.4(PSAP):c.797C>T (p.Ala266Val) rs772161921 0.00005
NM_002778.4(PSAP):c.940T>C (p.Tyr314His) rs202041927 0.00005
NM_002778.4(PSAP):c.*346C>T rs951110904 0.00004
NM_002778.4(PSAP):c.1280G>A (p.Ser427Asn) rs748633704 0.00004
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_002778.4(PSAP):c.214G>A (p.Ala72Thr) rs150701404 0.00004
NM_002778.4(PSAP):c.370G>C (p.Glu124Gln) rs770893932 0.00004
NM_002778.4(PSAP):c.37G>T (p.Ala13Ser) rs1327390670 0.00004
NM_002778.4(PSAP):c.589G>A (p.Val197Ile) rs191952316 0.00004
NM_002778.4(PSAP):c.*787C>T rs932052243 0.00003
NM_002778.4(PSAP):c.*9A>G rs376628499 0.00003
NM_002778.4(PSAP):c.1175G>A (p.Arg392Gln) rs754208657 0.00003
NM_002778.4(PSAP):c.11T>C (p.Leu4Pro) rs958206407 0.00003
NM_002778.4(PSAP):c.1432-3T>C rs200577646 0.00003
NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser) rs143773764 0.00003
NM_002778.4(PSAP):c.380G>A (p.Arg127His) rs886047151 0.00003
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) rs188854022 0.00003
NM_002778.4(PSAP):c.638G>A (p.Arg213Gln) rs773913014 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.830T>G (p.Met277Arg) rs772914489 0.00003
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150 0.00003
NM_002778.4(PSAP):c.1018G>A (p.Asp340Asn) rs759154767 0.00002
NM_002778.4(PSAP):c.1097G>C (p.Ser366Thr) rs775563822 0.00002
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) rs535525554 0.00002
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00002
NM_002778.4(PSAP):c.1252T>C (p.Tyr418His) rs764156331 0.00002
NM_002778.4(PSAP):c.127G>A (p.Gly43Arg) rs554592821 0.00002
NM_002778.4(PSAP):c.1297C>G (p.Leu433Val) rs761967647 0.00002
NM_002778.4(PSAP):c.337T>G (p.Tyr113Asp) rs762050153 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.407A>G (p.Asn136Ser) rs374177795 0.00002
NM_002778.4(PSAP):c.415G>A (p.Glu139Lys) rs753606836 0.00002
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) rs1428436713 0.00002
NM_002778.4(PSAP):c.629C>A (p.Thr210Asn) rs774029071 0.00002
NM_002778.4(PSAP):c.777+1915C>T rs759960679 0.00002
NM_002778.4(PSAP):c.916G>A (p.Glu306Lys) rs1431665170 0.00002
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002778.4(PSAP):c.*90C>T rs1348415797 0.00001
NM_002778.4(PSAP):c.*935A>G rs886047148 0.00001
NM_002778.4(PSAP):c.1040C>T (p.Ser347Leu) rs768846459 0.00001
NM_002778.4(PSAP):c.1063G>C (p.Glu355Gln) rs754626939 0.00001
NM_002778.4(PSAP):c.1073A>T (p.Gln358Leu) rs773659954 0.00001
NM_002778.4(PSAP):c.1093G>T (p.Gly365Cys) rs747170456 0.00001
NM_002778.4(PSAP):c.1130G>A (p.Ser377Asn) rs1234853998 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1180C>T (p.Pro394Ser) rs535856610 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.1219G>A (p.Gly407Ser) rs753089339 0.00001
NM_002778.4(PSAP):c.125G>A (p.Cys42Tyr) rs1171277739 0.00001
NM_002778.4(PSAP):c.1274A>G (p.Lys425Arg) rs748822422 0.00001
NM_002778.4(PSAP):c.1282A>G (p.Thr428Ala) rs200379457 0.00001
NM_002778.4(PSAP):c.1322G>A (p.Ser441Asn) rs540436494 0.00001
NM_002778.4(PSAP):c.1350+4C>T rs769353440 0.00001
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.161A>G (p.Asn54Ser) rs539091862 0.00001
NM_002778.4(PSAP):c.166C>T (p.Pro56Ser) rs754702748 0.00001
NM_002778.4(PSAP):c.239A>G (p.Asn80Ser) rs570654892 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.358A>G (p.Ile120Val) rs142784765 0.00001
NM_002778.4(PSAP):c.376-3C>T rs1444728021 0.00001
NM_002778.4(PSAP):c.38C>T (p.Ala13Val) rs1022105024 0.00001
NM_002778.4(PSAP):c.423C>T (p.Leu141=) rs780891597 0.00001
NM_002778.4(PSAP):c.428A>G (p.Lys143Arg) rs768267507 0.00001
NM_002778.4(PSAP):c.456G>C (p.Lys152Asn) rs1302474021 0.00001
NM_002778.4(PSAP):c.470A>G (p.Asn157Ser) rs756379007 0.00001
NM_002778.4(PSAP):c.490A>G (p.Met164Val) rs1842455358 0.00001
NM_002778.4(PSAP):c.76A>G (p.Thr26Ala) rs1322184020 0.00001
NM_002778.4(PSAP):c.771G>A (p.Met257Ile) rs1483269733 0.00001
NM_002778.4(PSAP):c.784A>G (p.Lys262Glu) rs1842310521 0.00001
NM_002778.4(PSAP):c.791T>A (p.Ile264Asn) rs776833741 0.00001
NM_002778.4(PSAP):c.856A>G (p.Lys286Glu) rs1376075974 0.00001
NM_002778.4(PSAP):c.875T>G (p.Val292Gly) rs758866050 0.00001
NM_002778.4(PSAP):c.910-6C>G rs746262168 0.00001
NM_002778.4(PSAP):c.928A>G (p.Lys310Glu) rs752687627 0.00001
NC_000010.10:g.(?_73499381)_(73862745_?)dup
NC_000010.10:g.(?_73569557)_(73594282_?)dup
NM_002778.4(PSAP):c.*113C>T rs544214520
NM_002778.4(PSAP):c.*526G>A rs1842177081
NM_002778.4(PSAP):c.*73C>T rs541692197
NM_002778.4(PSAP):c.*859C>T rs886047149
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val) rs544300820
NM_002778.4(PSAP):c.1033A>G (p.Met345Val)
NM_002778.4(PSAP):c.1035G>A (p.Met345Ile)
NM_002778.4(PSAP):c.1035G>T (p.Met345Ile)
NM_002778.4(PSAP):c.1049C>G (p.Pro350Arg) rs201129306
NM_002778.4(PSAP):c.1057C>G (p.Leu353Val)
NM_002778.4(PSAP):c.1064A>C (p.Glu355Ala)
NM_002778.4(PSAP):c.1067A>C (p.Glu356Ala) rs763529106
NM_002778.4(PSAP):c.1067A>G (p.Glu356Gly)
NM_002778.4(PSAP):c.1074G>C (p.Gln358His) rs1842259918
NM_002778.4(PSAP):c.1081G>A (p.Val361Met) rs2133031763
NM_002778.4(PSAP):c.1088C>G (p.Thr363Arg) rs140066253
NM_002778.4(PSAP):c.1093G>A (p.Gly365Ser)
NM_002778.4(PSAP):c.10C>T (p.Leu4Phe) rs574280149
NM_002778.4(PSAP):c.1122G>C (p.Glu374Asp) rs775169672
NM_002778.4(PSAP):c.1169G>T (p.Gly390Val)
NM_002778.4(PSAP):c.1174C>T (p.Arg392Trp)
NM_002778.4(PSAP):c.1191C>T (p.Thr397=)
NM_002778.4(PSAP):c.1192+6C>T
NM_002778.4(PSAP):c.1195C>T (p.His399Tyr)
NM_002778.4(PSAP):c.1198G>A (p.Val400Met)
NM_002778.4(PSAP):c.119C>A (p.Ser40Tyr)
NM_002778.4(PSAP):c.1201A>C (p.Thr401Pro)
NM_002778.4(PSAP):c.1204C>A (p.Gln402Lys) rs2133031097
NM_002778.4(PSAP):c.121G>A (p.Asp41Asn)
NM_002778.4(PSAP):c.1227C>G (p.Cys409Trp) rs147030327
NM_002778.4(PSAP):c.1243C>G (p.Leu415Val) rs2133030948
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) rs529719024
NM_002778.4(PSAP):c.1262G>A (p.Arg421His) rs774088864
NM_002778.4(PSAP):c.1262G>T (p.Arg421Leu) rs774088864
NM_002778.4(PSAP):c.1266C>G (p.Asn422Lys)
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1287G>C (p.Lys429Asn)
NM_002778.4(PSAP):c.1291G>A (p.Glu431Lys) rs973035615
NM_002778.4(PSAP):c.1309G>A (p.Glu437Lys) rs1842249871
NM_002778.4(PSAP):c.1323C>G (p.Ser441Arg) rs1419823465
NM_002778.4(PSAP):c.1328T>C (p.Leu443Pro)
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) rs1842249121
NM_002778.4(PSAP):c.1336C>G (p.Pro446Ala)
NM_002778.4(PSAP):c.133G>T (p.Val45Leu)
NM_002778.4(PSAP):c.1342C>G (p.Gln448Glu)
NM_002778.4(PSAP):c.1352G>A (p.Cys451Tyr) rs1194848564
NM_002778.4(PSAP):c.136_138inv (p.Lys46Leu)
NM_002778.4(PSAP):c.1375G>A (p.Glu459Lys)
NM_002778.4(PSAP):c.1389C>G (p.Ile463Met) rs762811199
NM_002778.4(PSAP):c.139C>T (p.His47Tyr)
NM_002778.4(PSAP):c.1404G>C (p.Glu468Asp)
NM_002778.4(PSAP):c.1415C>T (p.Pro472Leu)
NM_002778.4(PSAP):c.1422C>G (p.Phe474Leu)
NM_002778.4(PSAP):c.1472G>A (p.Gly491Glu) rs2133028767
NM_002778.4(PSAP):c.1487T>C (p.Ile496Thr)
NM_002778.4(PSAP):c.1514A>G (p.Asn505Ser)
NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln)
NM_002778.4(PSAP):c.1539+6T>G
NM_002778.4(PSAP):c.1546G>A (p.Glu516Lys)
NM_002778.4(PSAP):c.154G>A (p.Val52Ile)
NM_002778.4(PSAP):c.1558C>T (p.Arg520Cys)
NM_002778.4(PSAP):c.1559G>A (p.Arg520His)
NM_002778.4(PSAP):c.1562A>G (p.His521Arg)
NM_002778.4(PSAP):c.15C>A (p.Phe5Leu) rs2133075325
NM_002778.4(PSAP):c.190G>A (p.Asp64Asn) rs1842528237
NM_002778.4(PSAP):c.194T>C (p.Ile65Thr) rs372262659
NM_002778.4(PSAP):c.194T>G (p.Ile65Arg)
NM_002778.4(PSAP):c.19C>A (p.Leu7Met) rs768373930
NM_002778.4(PSAP):c.205G>A (p.Val69Ile)
NM_002778.4(PSAP):c.207_209del (p.Val70del) rs757687480
NM_002778.4(PSAP):c.226A>G (p.Met76Val) rs2133049114
NM_002778.4(PSAP):c.227T>C (p.Met76Thr)
NM_002778.4(PSAP):c.249+13G>C
NM_002778.4(PSAP):c.251A>T (p.Glu84Val)
NM_002778.4(PSAP):c.293C>T (p.Pro98Leu)
NM_002778.4(PSAP):c.325A>G (p.Ile109Val)
NM_002778.4(PSAP):c.325A>T (p.Ile109Leu)
NM_002778.4(PSAP):c.326T>C (p.Ile109Thr)
NM_002778.4(PSAP):c.332A>C (p.Asp111Ala)
NM_002778.4(PSAP):c.332A>G (p.Asp111Gly) rs1342627732
NM_002778.4(PSAP):c.346G>C (p.Val116Leu) rs2133048020
NM_002778.4(PSAP):c.397T>C (p.Ser133Pro) rs2133045059
NM_002778.4(PSAP):c.398C>G (p.Ser133Cys)
NM_002778.4(PSAP):c.39G>T (p.Ala13=) rs369102577
NM_002778.4(PSAP):c.40+6C>T rs2133075231
NM_002778.4(PSAP):c.429G>C (p.Lys143Asn)
NM_002778.4(PSAP):c.439G>A (p.Glu147Lys)
NM_002778.4(PSAP):c.450C>A (p.His150Gln) rs757752213
NM_002778.4(PSAP):c.475A>T (p.Ile159Phe)
NM_002778.4(PSAP):c.49G>A (p.Gly17Ser)
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) rs761637109
NM_002778.4(PSAP):c.524T>C (p.Ile175Thr)
NM_002778.4(PSAP):c.52C>G (p.Pro18Ala) rs920658754
NM_002778.4(PSAP):c.53C>T (p.Pro18Leu)
NM_002778.4(PSAP):c.550G>A (p.Gly184Ser)
NM_002778.4(PSAP):c.553C>T (p.Pro185Ser) rs2133044718
NM_002778.4(PSAP):c.576+3A>G rs2133044640
NM_002778.4(PSAP):c.577-3T>C
NM_002778.4(PSAP):c.586G>A (p.Asp196Asn)
NM_002778.4(PSAP):c.5A>G (p.Tyr2Cys)
NM_002778.4(PSAP):c.5A>T (p.Tyr2Phe) rs759590269
NM_002778.4(PSAP):c.608A>G (p.Gln203Arg) rs1842430591
NM_002778.4(PSAP):c.610A>T (p.Met204Leu) rs1842430461
NM_002778.4(PSAP):c.613_615dup (p.Val205dup) rs1589451004
NM_002778.4(PSAP):c.661G>T (p.Ala221Ser)
NM_002778.4(PSAP):c.692A>G (p.Asp231Gly)
NM_002778.4(PSAP):c.694C>T (p.Arg232Cys)
NM_002778.4(PSAP):c.695G>T (p.Arg232Leu) rs147265566
NM_002778.4(PSAP):c.697C>G (p.Leu233Val)
NM_002778.4(PSAP):c.712G>A (p.Ala238Thr) rs2133043341
NM_002778.4(PSAP):c.715G>A (p.Asp239Asn)
NM_002778.4(PSAP):c.718A>G (p.Ile240Val)
NM_002778.4(PSAP):c.720+5G>A rs1313793654
NM_002778.4(PSAP):c.720A>G (p.Ile240Met)
NM_002778.4(PSAP):c.721-11T>C
NM_002778.4(PSAP):c.721-5_721-3del
NM_002778.4(PSAP):c.727A>G (p.Asn243Asp) rs747236402
NM_002778.4(PSAP):c.743A>G (p.Tyr248Cys) rs2133040490
NM_002778.4(PSAP):c.755C>G (p.Ala252Gly)
NM_002778.4(PSAP):c.763A>T (p.Met255Leu) rs773349568
NM_002778.4(PSAP):c.769A>T (p.Met257Leu)
NM_002778.4(PSAP):c.775A>G (p.Met259Val)
NM_002778.4(PSAP):c.779A>G (p.Gln260Arg)
NM_002778.4(PSAP):c.789G>T (p.Glu263Asp)
NM_002778.4(PSAP):c.794G>A (p.Cys265Tyr) rs1842310226
NM_002778.4(PSAP):c.7G>A (p.Ala3Thr)
NM_002778.4(PSAP):c.802G>A (p.Val268Ile)
NM_002778.4(PSAP):c.835A>G (p.Met279Val) rs2133035273
NM_002778.4(PSAP):c.847G>C (p.Val283Leu)
NM_002778.4(PSAP):c.859G>T (p.Val287Leu)
NM_002778.4(PSAP):c.86C>G (p.Ser29Trp)
NM_002778.4(PSAP):c.86C>T (p.Ser29Leu)
NM_002778.4(PSAP):c.89C>T (p.Ala30Val)
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly) rs969229358
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_002778.4(PSAP):c.932C>G (p.Ser311Cys) rs762828056
NM_002778.4(PSAP):c.935A>G (p.Asp312Gly)
NM_002778.4(PSAP):c.990CAA[2] (p.Asn332del)

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