ClinVar Miner

List of variants reported as uncertain significance for anterior segment dysgenesis by Invitae

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 512
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) rs201955081 0.00044
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala) rs201039175 0.00031
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) rs560327746 0.00029
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val) rs865901577 0.00026
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met) rs183629867 0.00024
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser) rs775345164 0.00017
NM_001368894.2(PAX6):c.807+5C>T rs376564909 0.00014
NM_012293.3(PXDN):c.1789C>T (p.Arg597Trp) rs373022614 0.00014
NM_001368894.2(PAX6):c.957G>A (p.Pro319=) rs146433004 0.00013
NM_012293.3(PXDN):c.3551C>T (p.Thr1184Met) rs370226454 0.00013
NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro) rs371739601 0.00013
NM_001453.3(FOXC1):c.1403G>C (p.Gly468Ala) rs919121619 0.00012
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met) rs772632642 0.00012
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr) rs535065221 0.00011
NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr) rs916755482 0.00009
NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu) rs371048362 0.00009
NM_001368894.2(PAX6):c.958+4A>T rs765926181 0.00008
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu) rs886043447 0.00008
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys) rs1030716081 0.00008
NM_012186.3(FOXE3):c.604C>T (p.Pro202Ser) rs1213749118 0.00008
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val) rs767729842 0.00007
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg) rs901581290 0.00007
NM_001453.3(FOXC1):c.1412C>G (p.Thr471Ser) rs758013827 0.00006
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu) rs372395551 0.00006
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly) rs756037576 0.00005
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys) rs995348999 0.00005
NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly) rs768651099 0.00004
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) rs745571457 0.00004
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly) rs372281087 0.00004
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu) rs745950487 0.00004
NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr) rs886379083 0.00004
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser) rs112802909 0.00004
NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr) rs921860618 0.00004
NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser) rs994486517 0.00004
NM_012293.3(PXDN):c.1498T>C (p.Tyr500His) rs368890003 0.00004
NM_012293.3(PXDN):c.1680+6C>T rs930569592 0.00004
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu) rs748447804 0.00004
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met) rs577701184 0.00004
NM_001368894.2(PAX6):c.807+6G>A rs375134684 0.00003
NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr) rs281865460 0.00003
NM_001453.3(FOXC1):c.532G>C (p.Asp178His) rs751970827 0.00003
NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg) rs1277775861 0.00003
NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg) rs1226906213 0.00003
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg) rs780276474 0.00003
NM_012293.3(PXDN):c.1811C>T (p.Ser604Leu) rs575642508 0.00003
NM_012293.3(PXDN):c.701C>T (p.Ala234Val) rs376902965 0.00003
NM_001368894.2(PAX6):c.538A>T (p.Thr180Ser) rs141021880 0.00002
NM_001368894.2(PAX6):c.956C>T (p.Pro319Leu) rs759150602 0.00002
NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu) rs1215019381 0.00002
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser) rs772035500 0.00002
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg) rs908841297 0.00002
NM_001453.3(FOXC1):c.169C>T (p.Pro57Ser) rs1032706802 0.00002
NM_001453.3(FOXC1):c.820C>T (p.Pro274Ser) rs769224835 0.00002
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe) rs775681400 0.00002
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys) rs900562270 0.00002
NM_012186.3(FOXE3):c.191G>T (p.Arg64Leu) rs751816743 0.00002
NM_012186.3(FOXE3):c.19A>G (p.Met7Val) rs1300297197 0.00002
NM_012186.3(FOXE3):c.340A>C (p.Lys114Gln) rs768674287 0.00002
NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala) rs768612848 0.00002
NM_012186.3(FOXE3):c.542G>A (p.Gly181Glu) rs754614447 0.00002
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val) rs777536289 0.00002
NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser) rs1037554225 0.00002
NM_012186.3(FOXE3):c.956T>A (p.Leu319Gln) rs1308848565 0.00002
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile) rs769037467 0.00002
NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr) rs567182921 0.00002
NM_000325.6(PITX2):c.916G>A (p.Val306Met) rs760790139 0.00001
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn) rs571758306 0.00001
NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr) rs749992296 0.00001
NM_001368894.2(PAX6):c.1121C>T (p.Thr374Ile) rs1361659182 0.00001
NM_001368894.2(PAX6):c.1130C>T (p.Ser377Leu) rs1411880763 0.00001
NM_001368894.2(PAX6):c.1142G>A (p.Arg381Gln) rs780115865 0.00001
NM_001368894.2(PAX6):c.1282A>G (p.Met428Val) rs541260494 0.00001
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser) rs867806300 0.00001
NM_001453.3(FOXC1):c.1337_1338insTGG (p.Gly456dup) rs1762557230 0.00001
NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser) rs1311597906 0.00001
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg) rs759264099 0.00001
NM_001453.3(FOXC1):c.37C>G (p.Leu13Val) rs1245309163 0.00001
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu) rs1581373871 0.00001
NM_001453.3(FOXC1):c.571C>T (p.Leu191Phe) rs1762529243 0.00001
NM_001453.3(FOXC1):c.605C>A (p.Pro202Gln) rs1288507437 0.00001
NM_001453.3(FOXC1):c.646C>A (p.Pro216Thr) rs1419864390 0.00001
NM_001453.3(FOXC1):c.673G>A (p.Asp225Asn) rs747618420 0.00001
NM_001453.3(FOXC1):c.695C>T (p.Thr232Met) rs1762534255 0.00001
NM_001453.3(FOXC1):c.746G>T (p.Gly249Val) rs936269544 0.00001
NM_001453.3(FOXC1):c.836C>T (p.Ser279Leu) rs1255472143 0.00001
NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser) rs1331057949 0.00001
NM_001453.3(FOXC1):c.986G>C (p.Ser329Thr) rs748832697 0.00001
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg) rs958293767 0.00001
NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys) rs747148416 0.00001
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) rs1401137576 0.00001
NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln) rs1646887555 0.00001
NM_012186.3(FOXE3):c.663C>G (p.Ser221Arg) rs1304716566 0.00001
NM_012186.3(FOXE3):c.701C>T (p.Ala234Val) rs1646888269 0.00001
NM_012186.3(FOXE3):c.763G>A (p.Ala255Thr) rs911732099 0.00001
NM_012186.3(FOXE3):c.796C>T (p.Pro266Ser) rs1170907926 0.00001
NM_012186.3(FOXE3):c.830G>A (p.Gly277Asp) rs1189285117 0.00001
NM_012186.3(FOXE3):c.851A>G (p.Glu284Gly) rs956520813 0.00001
NM_012186.3(FOXE3):c.854C>A (p.Pro285His) rs1184373895 0.00001
NM_012186.3(FOXE3):c.893C>T (p.Pro298Leu) rs1570406106 0.00001
NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr) rs1085307504 0.00001
NM_012293.3(PXDN):c.1650C>T (p.Gly550=) rs753678349 0.00001
NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys) rs755097189 0.00001
NM_012293.3(PXDN):c.1885G>A (p.Val629Met) rs770134392 0.00001
NM_012293.3(PXDN):c.2180G>A (p.Arg727Gln) rs748238090 0.00001
NM_012293.3(PXDN):c.2369A>T (p.His790Leu) rs1682956712 0.00001
NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe) rs757055936 0.00001
NC_000001.10:g.(?_47716808)_(47882947_?)dup
NC_000001.11:g.47416279_47416517del rs2124040836
NC_000002.11:g.(?_1748008)_(1748227_?)dup
NC_000006.11:g.(?_1610681)_(1612342_?)dup
NM_000325.6(PITX2):c.242T>G (p.Val81Gly)
NM_000325.6(PITX2):c.287_288delinsCA (p.Arg96Pro)
NM_000325.6(PITX2):c.376G>A (p.Ala126Thr) rs2110435645
NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) rs104893859
NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)
NM_000325.6(PITX2):c.697A>G (p.Met233Val)
NM_001368894.2(PAX6):c.-120_-118dup
NM_001368894.2(PAX6):c.-52+1del rs1955943115
NM_001368894.2(PAX6):c.10+5G>T
NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)
NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)
NM_001368894.2(PAX6):c.1074+4A>G
NM_001368894.2(PAX6):c.1074+6T>C
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile) rs1346292898
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)
NM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile)
NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)
NM_001368894.2(PAX6):c.115C>G (p.Pro39Ala)
NM_001368894.2(PAX6):c.1166dup (p.His390fs) rs756801119
NM_001368894.2(PAX6):c.1168C>A (p.His390Asn)
NM_001368894.2(PAX6):c.1182C>G (p.His394Gln)
NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val) rs1230504203
NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)
NM_001368894.2(PAX6):c.141+3G>A
NM_001368894.2(PAX6):c.141+3G>C rs369243018
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) rs2135147324
NM_001368894.2(PAX6):c.184-3C>T rs2135101861
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val) rs1190491499
NM_001368894.2(PAX6):c.245C>T (p.Pro82Leu) rs1953954636
NM_001368894.2(PAX6):c.249G>T (p.Arg83Ser) rs2135097990
NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)
NM_001368894.2(PAX6):c.262A>T (p.Ser88Cys) rs1565239425
NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu) rs886042622
NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)
NM_001368894.2(PAX6):c.290T>C (p.Val97Ala) rs2135095172
NM_001368894.2(PAX6):c.336T>A (p.Phe112Leu) rs2135091755
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
NM_001368894.2(PAX6):c.399+3A>T rs2135086830
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser) rs1231578758
NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys) rs201983312
NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)
NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp) rs1299258202
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp) rs1592530260
NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu) rs954552997
NM_001368894.2(PAX6):c.541T>A (p.Ser181Thr) rs1592529768
NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys) rs1131692308
NM_001368894.2(PAX6):c.556C>A (p.Pro186Thr) rs1049560370
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu) rs2135152943
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)
NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)
NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)
NM_001368894.2(PAX6):c.590G>C (p.Gly197Ala) rs541894561
NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)
NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)
NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu) rs1954533614
NM_001368894.2(PAX6):c.724+20T>C
NM_001368894.2(PAX6):c.724+3G>A
NM_001368894.2(PAX6):c.724+8_724+9del
NM_001368894.2(PAX6):c.725-14A>G
NM_001368894.2(PAX6):c.725-8T>A
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln) rs2134611494
NM_001368894.2(PAX6):c.803T>G (p.Ile268Arg) rs2134610066
NM_001368894.2(PAX6):c.808G>T (p.Val270Leu) rs779126789
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)
NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala) rs1326972158
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg) rs1954518916
NM_001453.3(FOXC1):c.1004C>T (p.Ser335Leu)
NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)
NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)
NM_001453.3(FOXC1):c.1027G>A (p.Gly343Arg)
NM_001453.3(FOXC1):c.1039C>T (p.Pro347Ser)
NM_001453.3(FOXC1):c.103G>A (p.Gly35Ser) rs888646491
NM_001453.3(FOXC1):c.1040C>G (p.Pro347Arg)
NM_001453.3(FOXC1):c.1040C>T (p.Pro347Leu)
NM_001453.3(FOXC1):c.1051G>A (p.Gly351Ser)
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg) rs897755884
NM_001453.3(FOXC1):c.1063C>T (p.Pro355Ser)
NM_001453.3(FOXC1):c.1076C>T (p.Ser359Phe)
NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)
NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)
NM_001453.3(FOXC1):c.108C>G (p.Gly36=)
NM_001453.3(FOXC1):c.1091C>T (p.Pro364Leu)
NM_001453.3(FOXC1):c.1097G>T (p.Ser366Ile)
NM_001453.3(FOXC1):c.1111_1119dup (p.Ser373_Ser374insAlaGlySer)
NM_001453.3(FOXC1):c.1124GCG[3] (p.Gly378_Gly380del) rs76840944
NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del) rs76840944
NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del) rs76840944
NM_001453.3(FOXC1):c.1124GCG[8] (p.Gly379_Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1124GCG[9] (p.Gly378_Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1137C>G (p.Gly379=)
NM_001453.3(FOXC1):c.1145G>A (p.Gly382Glu)
NM_001453.3(FOXC1):c.1148C>G (p.Ala383Gly)
NM_001453.3(FOXC1):c.1148_1156del (p.Ala383_Gly385del) rs975290027
NM_001453.3(FOXC1):c.1155_1163del (p.386GAG[1])
NM_001453.3(FOXC1):c.1157G>C (p.Gly386Ala) rs1411477778
NM_001453.3(FOXC1):c.1159G>C (p.Ala387Pro)
NM_001453.3(FOXC1):c.115G>T (p.Ala39Ser)
NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3]) rs1462344492
NM_001453.3(FOXC1):c.1174A>G (p.Thr392Ala)
NM_001453.3(FOXC1):c.1175C>T (p.Thr392Ile)
NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)
NM_001453.3(FOXC1):c.1207T>C (p.Tyr403His)
NM_001453.3(FOXC1):c.1228G>T (p.Gly410Cys)
NM_001453.3(FOXC1):c.122C>G (p.Pro41Arg)
NM_001453.3(FOXC1):c.1231C>T (p.His411Tyr) rs2113114171
NM_001453.3(FOXC1):c.1231_1254del (p.His411_Gly418del)
NM_001453.3(FOXC1):c.1235T>G (p.Leu412Trp)
NM_001453.3(FOXC1):c.1253G>C (p.Gly418Ala)
NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val) rs1056318557
NM_001453.3(FOXC1):c.1262G>A (p.Gly421Asp)
NM_001453.3(FOXC1):c.1265C>T (p.Ser422Leu)
NM_001453.3(FOXC1):c.1288G>A (p.Asp430Asn) rs2113114322
NM_001453.3(FOXC1):c.1290C>T (p.Asp430=)
NM_001453.3(FOXC1):c.129C>T (p.Pro43=)
NM_001453.3(FOXC1):c.1300C>T (p.Pro434Ser)
NM_001453.3(FOXC1):c.1304C>G (p.Pro435Arg)
NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del) rs1208223684
NM_001453.3(FOXC1):c.1336C>G (p.His446Asp) rs2113114444
NM_001453.3(FOXC1):c.1337_1339del (p.His446_Gly447delinsArg)
NM_001453.3(FOXC1):c.1345G>A (p.Gly449Ser)
NM_001453.3(FOXC1):c.134G>A (p.Ser45Asn)
NM_001453.3(FOXC1):c.1351_1352insCCG (p.Gly450_Gly451insAla) rs1203559520
NM_001453.3(FOXC1):c.1390G>A (p.Ala464Thr)
NM_001453.3(FOXC1):c.1394C>G (p.Ala465Gly)
NM_001453.3(FOXC1):c.1399C>G (p.Gln467Glu)
NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)
NM_001453.3(FOXC1):c.1454T>C (p.Leu485Ser)
NM_001453.3(FOXC1):c.1464GGC[7] (p.Ala495dup) rs747574884
NM_001453.3(FOXC1):c.1464GGC[8] (p.Ala495_Gly496insAlaAla)
NM_001453.3(FOXC1):c.1482_1484dup (p.Ala495_Gly496insAla)
NM_001453.3(FOXC1):c.1483G>A (p.Ala495Thr)
NM_001453.3(FOXC1):c.148C>T (p.Pro50Ser)
NM_001453.3(FOXC1):c.1492C>T (p.Pro498Ser)
NM_001453.3(FOXC1):c.1496G>C (p.Gly499Ala)
NM_001453.3(FOXC1):c.155A>G (p.His52Arg)
NM_001453.3(FOXC1):c.1573G>A (p.Gly525Arg)
NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs) rs1762565496
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser) rs1481638796
NM_001453.3(FOXC1):c.1612T>C (p.Ser538Pro)
NM_001453.3(FOXC1):c.1631G>A (p.Gly544Glu)
NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)
NM_001453.3(FOXC1):c.182C>T (p.Ala61Val)
NM_001453.3(FOXC1):c.184C>T (p.Arg62Cys)
NM_001453.3(FOXC1):c.185G>A (p.Arg62His)
NM_001453.3(FOXC1):c.205C>G (p.Pro69Ala) rs1762519905
NM_001453.3(FOXC1):c.206C>T (p.Pro69Leu)
NM_001453.3(FOXC1):c.223G>A (p.Asp75Asn)
NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser) rs1554100945
NM_001453.3(FOXC1):c.262A>C (p.Thr88Pro) rs1762520834
NM_001453.3(FOXC1):c.281C>T (p.Ala94Val)
NM_001453.3(FOXC1):c.284C>T (p.Pro95Leu)
NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)
NM_001453.3(FOXC1):c.307G>C (p.Gly103Arg)
NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)
NM_001453.3(FOXC1):c.325A>G (p.Met109Val)
NM_001453.3(FOXC1):c.327G>A (p.Met109Ile) rs748064350
NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys) rs1581373749
NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)
NM_001453.3(FOXC1):c.36C>G (p.Ser12=)
NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys) rs1762523183
NM_001453.3(FOXC1):c.395T>C (p.Leu132Pro)
NM_001453.3(FOXC1):c.39G>A (p.Leu13=)
NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)
NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)
NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)
NM_001453.3(FOXC1):c.447C>T (p.Gly149=)
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del) rs2113111795
NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)
NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)
NM_001453.3(FOXC1):c.505C>G (p.Arg169Gly)
NM_001453.3(FOXC1):c.509G>A (p.Arg170Gln) rs2113111855
NM_001453.3(FOXC1):c.523AAG[2] (p.Lys177del)
NM_001453.3(FOXC1):c.536C>G (p.Ala179Gly) rs752984586
NM_001453.3(FOXC1):c.536C>T (p.Ala179Val)
NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del) rs774823663
NM_001453.3(FOXC1):c.553G>C (p.Glu185Gln)
NM_001453.3(FOXC1):c.556A>G (p.Lys186Glu)
NM_001453.3(FOXC1):c.556_558del (p.Lys186del) rs1486212361
NM_001453.3(FOXC1):c.559G>A (p.Asp187Asn)
NM_001453.3(FOXC1):c.562A>G (p.Arg188Gly)
NM_001453.3(FOXC1):c.566T>A (p.Leu189Gln) rs1227876001
NM_001453.3(FOXC1):c.577G>A (p.Glu193Lys)
NM_001453.3(FOXC1):c.587C>T (p.Pro196Leu)
NM_001453.3(FOXC1):c.58G>A (p.Gly20Ser)
NM_001453.3(FOXC1):c.602C>A (p.Pro201His) rs1762531102
NM_001453.3(FOXC1):c.603_614del (p.Pro203_Pro206del) rs1762531002
NM_001453.3(FOXC1):c.608C>T (p.Pro203Leu)
NM_001453.3(FOXC1):c.609_614del (p.Ala204_Pro205del)
NM_001453.3(FOXC1):c.614C>T (p.Pro205Leu)
NM_001453.3(FOXC1):c.617C>G (p.Pro206Arg) rs1245295588
NM_001453.3(FOXC1):c.61G>T (p.Gly21Cys) rs932770511
NM_001453.3(FOXC1):c.623A>G (p.Gln208Arg)
NM_001453.3(FOXC1):c.632G>A (p.Gly211Asp)
NM_001453.3(FOXC1):c.642C>A (p.Pro214=)
NM_001453.3(FOXC1):c.647C>A (p.Pro216Gln) rs1762532606
NM_001453.3(FOXC1):c.652C>T (p.Pro218Ser)
NM_001453.3(FOXC1):c.683C>T (p.Thr228Ile)
NM_001453.3(FOXC1):c.725C>T (p.Pro242Leu)
NM_001453.3(FOXC1):c.730G>A (p.Ala244Thr)
NM_001453.3(FOXC1):c.733G>A (p.Ala245Thr)
NM_001453.3(FOXC1):c.735_758del (p.Leu246_Ala253del)
NM_001453.3(FOXC1):c.735_758dup (p.Ala253_Val254insLeuGlySerGlySerAlaAlaAla)
NM_001453.3(FOXC1):c.736_759del (p.Leu246_Ala253del)
NM_001453.3(FOXC1):c.740_754del (p.Gly247_Ala251del)
NM_001453.3(FOXC1):c.745G>C (p.Gly249Arg)
NM_001453.3(FOXC1):c.750C>G (p.Ser250Arg)
NM_001453.3(FOXC1):c.751G>A (p.Ala251Thr)
NM_001453.3(FOXC1):c.754G>A (p.Ala252Thr) rs2113112550
NM_001453.3(FOXC1):c.755C>T (p.Ala252Val) rs1259243589
NM_001453.3(FOXC1):c.756C>T (p.Ala252=)
NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)
NM_001453.3(FOXC1):c.778C>G (p.Pro260Ala)
NM_001453.3(FOXC1):c.782A>G (p.Asp261Gly)
NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del) rs761199025
NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup) rs761199025
NM_001453.3(FOXC1):c.785G>A (p.Ser262Asn)
NM_001453.3(FOXC1):c.802_803delinsCA (p.Ser268His) rs2113112684
NM_001453.3(FOXC1):c.816C>A (p.Ser272Arg)
NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)
NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)
NM_001453.3(FOXC1):c.869C>A (p.Ser290Tyr) rs775681400
NM_001453.3(FOXC1):c.895G>A (p.Ala299Thr)
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del) rs774848608
NM_001453.3(FOXC1):c.927C>A (p.Ser309Arg) rs1762541775
NM_001453.3(FOXC1):c.934A>G (p.Asn312Asp)
NM_001453.3(FOXC1):c.955G>A (p.Gly319Arg)
NM_001453.3(FOXC1):c.961C>T (p.Pro321Ser)
NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)
NM_001453.3(FOXC1):c.976G>T (p.Ala326Ser)
NM_001453.3(FOXC1):c.979G>A (p.Glu327Lys) rs2113113220
NM_001453.3(FOXC1):c.991G>A (p.Gly331Ser) rs1242365822
NM_001453.3(FOXC1):c.991G>C (p.Gly331Arg)
NM_001453.3(FOXC1):c.995T>C (p.Leu332Pro)
NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)
NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala) rs886042841
NM_012186.3(FOXE3):c.131C>A (p.Ala44Glu)
NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)
NM_012186.3(FOXE3):c.134C>T (p.Ala45Val)
NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del) rs1415958869
NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)
NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser) rs1366587048
NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)
NM_012186.3(FOXE3):c.167C>T (p.Ala56Val) rs2124041820
NM_012186.3(FOXE3):c.170C>G (p.Pro57Arg)
NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg)
NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp) rs1646883301
NM_012186.3(FOXE3):c.179GGC[5] (p.Arg65del)
NM_012186.3(FOXE3):c.179GGC[7] (p.Arg65dup) rs775343166
NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)
NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro)
NM_012186.3(FOXE3):c.188G>C (p.Arg63Pro)
NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)
NM_012186.3(FOXE3):c.194G>T (p.Arg65Leu)
NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)
NM_012186.3(FOXE3):c.204G>C (p.Gln68His) rs1646883579
NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)
NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)
NM_012186.3(FOXE3):c.22G>C (p.Asp8His) rs1646882092
NM_012186.3(FOXE3):c.258C>G (p.His86Gln)
NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser)
NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp) rs1289511554
NM_012186.3(FOXE3):c.272G>A (p.Arg91His)
NM_012186.3(FOXE3):c.273C>T (p.Arg91=)
NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser) rs2124042280
NM_012186.3(FOXE3):c.296G>A (p.Arg99His)
NM_012186.3(FOXE3):c.2del (p.Met1fs) rs2124041028
NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)
NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)
NM_012186.3(FOXE3):c.325C>T (p.Arg109Cys)
NM_012186.3(FOXE3):c.326G>A (p.Arg109His)
NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln)
NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro) rs779654261
NM_012186.3(FOXE3):c.341A>G (p.Lys114Arg) rs2124042559
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) rs1057518737
NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr)
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys) rs1646884682
NM_012186.3(FOXE3):c.374T>C (p.Leu125Pro) rs2124042635
NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu)
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser) rs373777806
NM_012186.3(FOXE3):c.430T>C (p.Tyr144His)
NM_012186.3(FOXE3):c.460A>G (p.Met154Val)
NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)
NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys) rs1389713794
NM_012186.3(FOXE3):c.488G>A (p.Arg163His)
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565
NM_012186.3(FOXE3):c.491G>C (p.Arg164Pro)
NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys)
NM_012186.3(FOXE3):c.498C>A (p.Arg166=)
NM_012186.3(FOXE3):c.502A>C (p.Lys168Gln)
NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)
NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
NM_012186.3(FOXE3):c.554C>T (p.Pro185Leu) rs2124043406
NM_012186.3(FOXE3):c.557T>C (p.Phe186Ser)
NM_012186.3(FOXE3):c.562T>C (p.Tyr188His)
NM_012186.3(FOXE3):c.562TACGCGCCC[1] (p.188YAP[1]) rs768610152
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) rs768610152
NM_012186.3(FOXE3):c.567_568delinsTT (p.Pro190Ser)
NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu)
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1]) rs1336140217
NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro)
NM_012186.3(FOXE3):c.586G>A (p.Gly196Ser)
NM_012186.3(FOXE3):c.641C>T (p.Ala214Val)
NM_012186.3(FOXE3):c.642G>T (p.Ala214=)
NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)
NM_012186.3(FOXE3):c.650T>C (p.Phe217Ser)
NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile)
NM_012186.3(FOXE3):c.672C>G (p.Asn224Lys) rs1255205439
NM_012186.3(FOXE3):c.685C>A (p.Leu229Ile) rs2124043930
NM_012186.3(FOXE3):c.689C>G (p.Ala230Gly)
NM_012186.3(FOXE3):c.694C>G (p.Leu232Val)
NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr)
NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys)
NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser) rs1646888724
NM_012186.3(FOXE3):c.712C>T (p.Pro238Ser) rs1327526761
NM_012186.3(FOXE3):c.717C>G (p.Cys239Trp)
NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr)
NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser)
NM_012186.3(FOXE3):c.754C>A (p.Pro252Thr)
NM_012186.3(FOXE3):c.756_779del (p.Cys253_Pro260del) rs761938618
NM_012186.3(FOXE3):c.773C>T (p.Ser258Phe)
NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg)
NM_012186.3(FOXE3):c.77G>A (p.Gly26Glu) rs2124041379
NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)
NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser)
NM_012186.3(FOXE3):c.802C>A (p.Arg268Ser)
NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro)
NM_012186.3(FOXE3):c.809T>A (p.Val270Glu)
NM_012186.3(FOXE3):c.812T>C (p.Leu271Pro) rs1351111614
NM_012186.3(FOXE3):c.822G>A (p.Thr274=)
NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
NM_012186.3(FOXE3):c.824G>T (p.Arg275Leu)
NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)
NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser)
NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg)
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer) rs1476879051
NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu) rs1184373895
NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg)
NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)
NM_012186.3(FOXE3):c.877dup (p.Ala293fs)
NM_012186.3(FOXE3):c.880G>A (p.Ala294Thr)
NM_012186.3(FOXE3):c.883G>A (p.Ala295Thr)
NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)
NM_012186.3(FOXE3):c.922C>A (p.Gln308Lys)
NM_012186.3(FOXE3):c.926C>G (p.Pro309Arg)
NM_012186.3(FOXE3):c.92C>A (p.Pro31Gln)
NM_012186.3(FOXE3):c.932_944del (p.Phe311fs) rs2124045053
NM_012186.3(FOXE3):c.946G>A (p.Glu316Lys)
NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr) rs1646882579
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser) rs2125425458
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile) rs773445177
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
NM_012293.3(PXDN):c.2201A>T (p.Asp734Val)
NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys) rs2125412247
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg) rs769171499
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met)
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu) rs2125500995
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu)
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met)
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys) rs367602205
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe)
NM_019040.5(ELP4):c.*2022_*2023del rs777790874

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.