ClinVar Miner

List of variants reported as uncertain significance for metachromatic leukodystrophy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 397
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe) rs532242066 0.00024
NM_000487.6(ARSA):c.656G>A (p.Arg219His) rs148403406 0.00021
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_000487.6(ARSA):c.680C>G (p.Ser227Cys) rs138468395 0.00019
NM_000487.6(ARSA):c.14C>T (p.Ala5Val) rs201315540 0.00018
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.557G>A (p.Arg186His) rs138880818 0.00013
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg) rs139073195 0.00012
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00009
NM_002778.4(PSAP):c.637C>T (p.Arg213Trp) rs150521779 0.00009
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050 0.00009
NM_000487.6(ARSA):c.728G>A (p.Arg243His) rs142142638 0.00008
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_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_000487.6(ARSA):c.637G>A (p.Asp213Asn) rs369786038 0.00006
NM_000487.6(ARSA):c.825G>T (p.Glu275Asp) rs907795869 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.1000A>T (p.Thr334Ser) rs749663645 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.380G>A (p.Arg127His) rs886047151 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_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000487.6(ARSA):c.492C>G (p.Phe164Leu) rs745605987 0.00004
NM_000487.6(ARSA):c.601G>T (p.Ala201Ser) rs377625311 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.638G>A (p.Arg213Gln) rs773913014 0.00004
NM_000487.6(ARSA):c.1157G>A (p.Arg386His) rs747155690 0.00003
NM_000487.6(ARSA):c.13G>A (p.Ala5Thr) rs765893073 0.00003
NM_000487.6(ARSA):c.1441C>T (p.Arg481Trp) rs747443475 0.00003
NM_000487.6(ARSA):c.1442G>A (p.Arg481Gln) rs776116011 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.229G>T (p.Ala77Ser) rs763880042 0.00003
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) rs74315271 0.00003
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864 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.830T>G (p.Met277Arg) rs772914489 0.00003
NM_000487.6(ARSA):c.1450G>C (p.Asp484His) rs749061034 0.00002
NM_000487.6(ARSA):c.1489C>T (p.Pro497Ser) rs1250959266 0.00002
NM_000487.6(ARSA):c.343G>A (p.Ala115Thr) rs1421381874 0.00002
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg) rs144393886 0.00002
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) rs374482942 0.00002
NM_000487.6(ARSA):c.629T>A (p.Leu210His) rs762593908 0.00002
NM_000487.6(ARSA):c.684C>T (p.His228=) rs762695598 0.00002
NM_000487.6(ARSA):c.73A>G (p.Ile25Val) rs549154390 0.00002
NM_000487.6(ARSA):c.855-3C>T rs1338786023 0.00002
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.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.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_000487.6(ARSA):c.1063T>G (p.Leu355Val) rs763446964 0.00001
NM_000487.6(ARSA):c.1106A>C (p.Lys369Thr) rs200901626 0.00001
NM_000487.6(ARSA):c.1211-5C>G rs778131215 0.00001
NM_000487.6(ARSA):c.1277A>G (p.Glu426Gly) rs376220189 0.00001
NM_000487.6(ARSA):c.131C>T (p.Pro44Leu) rs1340814173 0.00001
NM_000487.6(ARSA):c.1321T>G (p.Tyr441Asp) rs2082645489 0.00001
NM_000487.6(ARSA):c.134G>C (p.Ser45Thr) rs867624246 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.1415T>C (p.Val472Ala) rs978574508 0.00001
NM_000487.6(ARSA):c.1423G>A (p.Gly475Ser) rs1017776709 0.00001
NM_000487.6(ARSA):c.1445G>A (p.Gly482Asp) rs745438306 0.00001
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr) rs1278738755 0.00001
NM_000487.6(ARSA):c.242G>C (p.Gly81Ala) rs1389990700 0.00001
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658 0.00001
NM_000487.6(ARSA):c.350G>A (p.Gly117Asp) rs1433109241 0.00001
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00001
NM_000487.6(ARSA):c.499G>T (p.Ala167Ser) rs578188411 0.00001
NM_000487.6(ARSA):c.56T>C (p.Val19Ala) rs1235007867 0.00001
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377 0.00001
NM_000487.6(ARSA):c.727C>T (p.Arg243Cys) rs369593442 0.00001
NM_000487.6(ARSA):c.867G>A (p.Met289Ile) rs761919002 0.00001
NM_000487.6(ARSA):c.878G>A (p.Arg293Gln) rs373866455 0.00001
NM_000487.6(ARSA):c.970A>G (p.Ile324Val) rs557527090 0.00001
NM_000487.6(ARSA):c.971T>C (p.Ile324Thr) rs1338627220 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.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.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.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.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_000487.6(ARSA):c.1012C>G (p.Leu338Val) rs2146719624
NM_000487.6(ARSA):c.1030G>C (p.Ala344Pro)
NM_000487.6(ARSA):c.104A>G (p.Tyr35Cys) rs74315268
NM_000487.6(ARSA):c.104A>T (p.Tyr35Phe)
NM_000487.6(ARSA):c.1052C>T (p.Pro351Leu)
NM_000487.6(ARSA):c.10G>A (p.Gly4Arg)
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1108-12C>G rs757806374
NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro)
NM_000487.6(ARSA):c.1149C>A (p.Asp383Glu)
NM_000487.6(ARSA):c.1157G>C (p.Arg386Pro) rs747155690
NM_000487.6(ARSA):c.1171G>C (p.Val391Leu)
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1211-2A>G rs74925710
NM_000487.6(ARSA):c.1211-3C>T
NM_000487.6(ARSA):c.1252G>A (p.Ala418Thr)
NM_000487.6(ARSA):c.1256C>A (p.Ser419Tyr) rs998702737
NM_000487.6(ARSA):c.1280C>T (p.Pro427Leu)
NM_000487.6(ARSA):c.1294G>A (p.Asp432Asn)
NM_000487.6(ARSA):c.1298T>G (p.Leu433Arg) rs2146716505
NM_000487.6(ARSA):c.130C>A (p.Pro44Thr)
NM_000487.6(ARSA):c.1313G>A (p.Gly438Asp)
NM_000487.6(ARSA):c.1363C>A (p.Leu455Met)
NM_000487.6(ARSA):c.1370C>T (p.Ala457Val)
NM_000487.6(ARSA):c.1376A>G (p.Lys459Arg)
NM_000487.6(ARSA):c.1385A>G (p.Gln462Arg) rs2146716052
NM_000487.6(ARSA):c.1390C>T (p.Leu464Phe) rs2146716030
NM_000487.6(ARSA):c.1397C>T (p.Ala466Val) rs763065602
NM_000487.6(ARSA):c.1408_1419del (p.Ala470_Thr473del) rs2082643081
NM_000487.6(ARSA):c.1417A>T (p.Thr473Ser) rs1603444852
NM_000487.6(ARSA):c.1429A>T (p.Ser477Cys)
NM_000487.6(ARSA):c.1434G>C (p.Gln478His) rs769169905
NM_000487.6(ARSA):c.1435G>A (p.Val479Met)
NM_000487.6(ARSA):c.1436T>C (p.Val479Ala)
NM_000487.6(ARSA):c.1439C>T (p.Ala480Val) rs1490565534
NM_000487.6(ARSA):c.1446C>T (p.Gly482=) rs759357711
NM_000487.6(ARSA):c.1453C>T (p.Pro485Ser)
NM_000487.6(ARSA):c.1456G>A (p.Ala486Thr)
NM_000487.6(ARSA):c.1463A>G (p.Gln488Arg) rs2146715572
NM_000487.6(ARSA):c.1472G>A (p.Cys491Tyr) rs1060499585
NM_000487.6(ARSA):c.1480G>A (p.Gly494Ser) rs144323513
NM_000487.6(ARSA):c.1492C>A (p.Arg498Ser)
NM_000487.6(ARSA):c.1492C>T (p.Arg498Cys)
NM_000487.6(ARSA):c.1492del (p.Arg498fs)
NM_000487.6(ARSA):c.1516G>T (p.Asp506Tyr) rs764345345
NM_000487.6(ARSA):c.151C>G (p.Leu51Val) rs1348625953
NM_000487.6(ARSA):c.1523A>G (p.His508Arg) rs2082640761
NM_000487.6(ARSA):c.154G>A (p.Asp52Asn) rs2146728012
NM_000487.6(ARSA):c.169G>A (p.Gly57Arg)
NM_000487.6(ARSA):c.173G>T (p.Gly58Val) rs2082698425
NM_000487.6(ARSA):c.176T>C (p.Leu59Pro)
NM_000487.6(ARSA):c.17C>T (p.Pro6Leu)
NM_000487.6(ARSA):c.196G>A (p.Val66Met)
NM_000487.6(ARSA):c.200C>T (p.Pro67Leu) rs765558965
NM_000487.6(ARSA):c.205T>C (p.Ser69Pro) rs2146727641
NM_000487.6(ARSA):c.211T>G (p.Cys71Gly)
NM_000487.6(ARSA):c.221C>G (p.Ser74Cys) rs2146727534
NM_000487.6(ARSA):c.225-15T>C
NM_000487.6(ARSA):c.225-3C>G rs756812838
NM_000487.6(ARSA):c.231_232delinsTT (p.Leu78Phe) rs1603445011
NM_000487.6(ARSA):c.247C>T (p.Leu83Phe) rs1603445008
NM_000487.6(ARSA):c.25C>A (p.Leu9Ile)
NM_000487.6(ARSA):c.264C>T (p.Gly88=)
NM_000487.6(ARSA):c.278T>G (p.Val93Gly) rs2146726476
NM_000487.6(ARSA):c.28C>G (p.Leu10Val) rs911532602
NM_000487.6(ARSA):c.295C>T (p.Arg99Trp)
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln) rs759295985
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro) rs759295985
NM_000487.6(ARSA):c.296G>T (p.Arg99Leu) rs759295985
NM_000487.6(ARSA):c.308C>G (p.Pro103Arg)
NM_000487.6(ARSA):c.323C>T (p.Thr108Ile)
NM_000487.6(ARSA):c.326T>C (p.Val109Ala)
NM_000487.6(ARSA):c.329C>T (p.Ala110Val) rs1191014984
NM_000487.6(ARSA):c.347G>A (p.Arg116Gln) rs754795152
NM_000487.6(ARSA):c.349G>A (p.Gly117Ser) rs2146725948
NM_000487.6(ARSA):c.349G>C (p.Gly117Arg)
NM_000487.6(ARSA):c.355C>G (p.Leu119Val) rs1569081347
NM_000487.6(ARSA):c.388G>A (p.Val130Met)
NM_000487.6(ARSA):c.38T>A (p.Leu13Gln)
NM_000487.6(ARSA):c.394C>T (p.Pro132Ser)
NM_000487.6(ARSA):c.419A>T (p.His140Leu) rs2082687894
NM_000487.6(ARSA):c.424G>A (p.Gly142Ser) rs2146725322
NM_000487.6(ARSA):c.446T>C (p.Ile149Thr)
NM_000487.6(ARSA):c.454T>A (p.Ser152Thr)
NM_000487.6(ARSA):c.455C>G (p.Ser152Cys)
NM_000487.6(ARSA):c.465+3A>G rs2082686619
NM_000487.6(ARSA):c.465+5G>A rs752777806
NM_000487.6(ARSA):c.466-3C>G
NM_000487.6(ARSA):c.473G>C (p.Cys158Ser) rs1226689808
NM_000487.6(ARSA):c.484A>G (p.Thr162Ala)
NM_000487.6(ARSA):c.485C>G (p.Thr162Ser)
NM_000487.6(ARSA):c.488G>A (p.Cys163Tyr) rs1430695346
NM_000487.6(ARSA):c.498G>A (p.Pro166=)
NM_000487.6(ARSA):c.511G>T (p.Asp171Tyr) rs74315466
NM_000487.6(ARSA):c.518G>A (p.Gly173Asp)
NM_000487.6(ARSA):c.535G>A (p.Val179Ile)
NM_000487.6(ARSA):c.558C>A (p.Asn186Lys)
NM_000487.6(ARSA):c.562T>G (p.Ser188Ala) rs1428555439
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
NM_000487.6(ARSA):c.568G>C (p.Glu190Gln)
NM_000487.6(ARSA):c.571G>A (p.Ala191Thr) rs2146723680
NM_000487.6(ARSA):c.577C>T (p.Pro193Ser)
NM_000487.6(ARSA):c.611T>A (p.Met204Lys)
NM_000487.6(ARSA):c.619G>A (p.Ala207Thr)
NM_000487.6(ARSA):c.620C>T (p.Ala207Val) rs759098239
NM_000487.6(ARSA):c.633G>A (p.Met211Ile) rs773059458
NM_000487.6(ARSA):c.635C>G (p.Ala212Gly)
NM_000487.6(ARSA):c.646C>T (p.Arg216Cys)
NM_000487.6(ARSA):c.658C>A (p.Pro220Thr)
NM_000487.6(ARSA):c.698C>G (p.Pro233Arg)
NM_000487.6(ARSA):c.724G>A (p.Glu242Lys) rs757891932
NM_000487.6(ARSA):c.725A>G (p.Glu242Gly) rs1403824251
NM_000487.6(ARSA):c.761T>C (p.Met254Thr) rs1200786946
NM_000487.6(ARSA):c.781G>A (p.Gly261Arg) rs138850940
NM_000487.6(ARSA):c.782G>A (p.Gly261Glu)
NM_000487.6(ARSA):c.800T>C (p.Ile267Thr)
NM_000487.6(ARSA):c.802G>A (p.Gly268Arg) rs1404723529
NM_000487.6(ARSA):c.818T>C (p.Leu273Pro)
NM_000487.6(ARSA):c.820G>A (p.Glu274Lys)
NM_000487.6(ARSA):c.823G>A (p.Glu275Lys)
NM_000487.6(ARSA):c.823G>C (p.Glu275Gln)
NM_000487.6(ARSA):c.854G>A (p.Gly285Glu)
NM_000487.6(ARSA):c.913G>A (p.Gly305Arg) rs2146720596
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.953C>T (p.Ala318Val) rs997702399
NM_000487.6(ARSA):c.967C>T (p.His323Tyr) rs920501988
NM_000487.6(ARSA):c.973G>A (p.Ala325Thr)
NM_000487.6(ARSA):c.978C>T (p.Pro326=)
NM_000487.6(ARSA):c.980-21_980-20delinsCT
NM_000487.6(ARSA):c.986C>G (p.Thr329Ser)
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.1075G>A (p.Glu359Lys)
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.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.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.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.409C>T (p.Leu137Phe)
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.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.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.910-11T>G
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.990C>A (p.Asp330Glu)
NM_002778.4(PSAP):c.990CAA[2] (p.Asn332del)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.