ClinVar Miner

List of variants in gene FOXC1 studied for Axenfeld-Rieger syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 409
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=) rs73406891 0.03175
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096 0.03096
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00363
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg) rs75089353 0.00284
NM_001453.3(FOXC1):c.1453T>C (p.Leu485=) rs76166083 0.00259
NM_001453.3(FOXC1):c.1050C>T (p.Leu350=) rs767285866 0.00177
NM_001453.3(FOXC1):c.207G>T (p.Pro69=) rs35974174 0.00112
NM_001453.3(FOXC1):c.921C>T (p.Gly307=) rs369300819 0.00105
NM_001453.3(FOXC1):c.114C>T (p.Thr38=) rs538126253 0.00104
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=) rs147749489 0.00077
NM_001453.3(FOXC1):c.597C>G (p.Arg199=) rs529227054 0.00070
NM_001453.3(FOXC1):c.718C>T (p.Leu240=) rs754033600 0.00063
NM_001453.3(FOXC1):c.1173G>T (p.Gly391=) rs773512259 0.00053
NM_001453.3(FOXC1):c.544G>A (p.Asp182Asn) rs142371761 0.00039
NM_001453.3(FOXC1):c.1189C>T (p.Leu397=) rs771039137 0.00032
NM_001453.3(FOXC1):c.1639G>A (p.Val547Ile) rs570658290 0.00027
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val) rs865901577 0.00026
NM_001453.3(FOXC1):c.843G>T (p.Arg281=) rs1006154109 0.00026
NM_001453.3(FOXC1):c.171G>C (p.Pro57=) rs188085399 0.00024
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln) rs754743917 0.00024
NM_001453.3(FOXC1):c.1452C>T (p.His484=) rs749512415 0.00019
NM_001453.3(FOXC1):c.1443C>T (p.Asp481=) rs183970787 0.00017
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser) rs775345164 0.00017
NM_001453.3(FOXC1):c.216G>A (p.Gln72=) rs200040370 0.00016
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=) rs545478008 0.00014
NM_001453.3(FOXC1):c.1403G>C (p.Gly468Ala) rs919121619 0.00012
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr) rs535065221 0.00011
NM_001453.3(FOXC1):c.1230C>T (p.Gly410=) rs1176446421 0.00009
NM_001453.3(FOXC1):c.567G>A (p.Leu189=) rs543542572 0.00009
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu) rs886043447 0.00008
NM_001453.3(FOXC1):c.1337A>G (p.His446Arg) rs1413102496 0.00007
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val) rs767729842 0.00007
NM_001453.3(FOXC1):c.783C>T (p.Asp261=) rs754761427 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_001453.3(FOXC1):c.351C>T (p.Asp117=) rs1391853754 0.00006
NM_001453.3(FOXC1):c.9G>T (p.Ala3=) rs779435104 0.00006
NM_001453.3(FOXC1):c.1170C>G (p.Ala390=) rs908957809 0.00005
NM_001453.3(FOXC1):c.1284G>A (p.Leu428=) rs1201818386 0.00005
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly) rs756037576 0.00005
NM_001453.3(FOXC1):c.195G>A (p.Gly65=) rs150084174 0.00005
NM_001453.3(FOXC1):c.474C>T (p.Ser158=) rs369346224 0.00004
NM_001453.3(FOXC1):c.708G>A (p.Pro236=) rs775979008 0.00004
NM_001453.3(FOXC1):c.915C>T (p.Ser305=) rs570694575 0.00004
NM_001453.3(FOXC1):c.1032C>A (p.Ile344=) rs539532417 0.00003
NM_001453.3(FOXC1):c.1074C>T (p.Ser358=) rs747540420 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_001453.3(FOXC1):c.1017C>T (p.Ser339=) rs770183159 0.00002
NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu) rs1215019381 0.00002
NM_001453.3(FOXC1):c.1245G>T (p.Ala415=) rs759491792 0.00002
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser) rs772035500 0.00002
NM_001453.3(FOXC1):c.1320C>G (p.Ser440Arg) rs998203463 0.00002
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg) rs908841297 0.00002
NM_001453.3(FOXC1):c.147C>T (p.His49=) rs1400944385 0.00002
NM_001453.3(FOXC1):c.169C>T (p.Pro57Ser) rs1032706802 0.00002
NM_001453.3(FOXC1):c.735C>T (p.Ala245=) rs1455631339 0.00002
NM_001453.3(FOXC1):c.786C>T (p.Ser262=) rs1284573981 0.00002
NM_001453.3(FOXC1):c.820C>T (p.Pro274Ser) rs769224835 0.00002
NM_001453.3(FOXC1):c.864G>A (p.Ala288=) rs1477621509 0.00002
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe) rs775681400 0.00002
NM_001453.3(FOXC1):c.1015T>C (p.Ser339Pro) rs1422224202 0.00001
NM_001453.3(FOXC1):c.1038C>G (p.Pro346=) rs1355905429 0.00001
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser) rs867806300 0.00001
NM_001453.3(FOXC1):c.1278C>T (p.Asp426=) rs1011576688 0.00001
NM_001453.3(FOXC1):c.1337_1338insTGG (p.Gly456dup) rs1762557230 0.00001
NM_001453.3(FOXC1):c.1386C>T (p.His462=) rs1413952291 0.00001
NM_001453.3(FOXC1):c.144G>T (p.Ser48=) rs112885689 0.00001
NM_001453.3(FOXC1):c.1575G>T (p.Gly525=) rs139877144 0.00001
NM_001453.3(FOXC1):c.1629C>T (p.Ser543=) rs747055801 0.00001
NM_001453.3(FOXC1):c.1638C>T (p.Phe546=) rs1327937746 0.00001
NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser) rs1311597906 0.00001
NM_001453.3(FOXC1):c.333C>T (p.Arg111=) rs547414473 0.00001
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg) rs759264099 0.00001
NM_001453.3(FOXC1):c.363C>T (p.Gly121=) rs752309038 0.00001
NM_001453.3(FOXC1):c.375C>T (p.Ser125=) rs765626020 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.498C>T (p.Ser166=) rs1199147210 0.00001
NM_001453.3(FOXC1):c.570C>T (p.His190=) rs1199142990 0.00001
NM_001453.3(FOXC1):c.571C>T (p.Leu191Phe) rs1762529243 0.00001
NM_001453.3(FOXC1):c.600G>C (p.Gln200His) rs549370363 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.660C>T (p.Pro220=) rs1438325732 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
NC_000006.11:g.(?_1609367)_(1610939_?)del
NC_000006.11:g.(?_1610666)_(1612017_?)del
NC_000006.11:g.(?_1610681)_(1612342_?)del
NC_000006.11:g.(?_1610681)_(1612342_?)dup
NM_001453.3(FOXC1):c.1004C>T (p.Ser335Leu)
NM_001453.3(FOXC1):c.1007C>T (p.Ala336Val)
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs) rs1057519471
NM_001453.3(FOXC1):c.1020G>A (p.Ser340=)
NM_001453.3(FOXC1):c.1022G>A (p.Arg341His)
NM_001453.3(FOXC1):c.1025C>G (p.Ala342Gly)
NM_001453.3(FOXC1):c.1027G>A (p.Gly343Arg)
NM_001453.3(FOXC1):c.1029G>A (p.Gly343=)
NM_001453.3(FOXC1):c.1038C>T (p.Pro346=)
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.104_105insT (p.Gly36fs)
NM_001453.3(FOXC1):c.104del (p.Gly35fs)
NM_001453.3(FOXC1):c.1050C>G (p.Leu350=)
NM_001453.3(FOXC1):c.1051G>A (p.Gly351Ser)
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg) rs897755884
NM_001453.3(FOXC1):c.1059C>T (p.Tyr353=)
NM_001453.3(FOXC1):c.105C>T (p.Gly35=)
NM_001453.3(FOXC1):c.1063C>T (p.Pro355Ser)
NM_001453.3(FOXC1):c.1076C>T (p.Ser359Phe)
NM_001453.3(FOXC1):c.1077C>T (p.Ser359=)
NM_001453.3(FOXC1):c.1078C>T (p.Leu360Phe)
NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)
NM_001453.3(FOXC1):c.1089C>T (p.Ser363=) rs1364012338
NM_001453.3(FOXC1):c.108C>G (p.Gly36=)
NM_001453.3(FOXC1):c.1091C>T (p.Pro364Leu)
NM_001453.3(FOXC1):c.1092dup (p.Cys365fs)
NM_001453.3(FOXC1):c.1097G>T (p.Ser366Ile)
NM_001453.3(FOXC1):c.1111_1119dup (p.Ser373_Ser374insAlaGlySer)
NM_001453.3(FOXC1):c.1113G>T (p.Ala371=) rs1762548215
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[7] (p.Gly380dup) 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.1137C>T (p.Gly379=)
NM_001453.3(FOXC1):c.1140dup (p.Ala381fs)
NM_001453.3(FOXC1):c.1141dup (p.Ala381fs)
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs) rs1554101058
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.1149_1158dup (p.Ala387fs)
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.1157del (p.Gly386fs) rs1762550387
NM_001453.3(FOXC1):c.1157dup (p.Ala387fs)
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.116_123del (p.Ala39fs) rs1057519472
NM_001453.3(FOXC1):c.1174A>G (p.Thr392Ala)
NM_001453.3(FOXC1):c.1175C>T (p.Thr392Ile)
NM_001453.3(FOXC1):c.1179C>G (p.Tyr393Ter)
NM_001453.3(FOXC1):c.1181A>G (p.His394Arg)
NM_001453.3(FOXC1):c.1193_1196dup (p.Met400fs)
NM_001453.3(FOXC1):c.1207T>C (p.Tyr403His)
NM_001453.3(FOXC1):c.1218C>G (p.Gly406=)
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.1245G>C (p.Ala415=)
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>A (p.Ser422Ter) rs1057519482
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.1299G>A (p.Leu433=)
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.1326G>A (p.Ser442=)
NM_001453.3(FOXC1):c.1329C>T (p.Ser443=)
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.1338CGG[10] (p.Gly455_Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1338CGG[11] (p.Gly454_Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[6] (p.Gly455_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
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.135dup (p.Val46fs)
NM_001453.3(FOXC1):c.1362G>C (p.Gly454=)
NM_001453.3(FOXC1):c.1380C>T (p.Gly460=)
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.1399C>T (p.Gln467Ter) rs1297907614
NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter) rs372857241
NM_001453.3(FOXC1):c.1430del (p.Gln477fs)
NM_001453.3(FOXC1):c.1437C>T (p.Gly479=)
NM_001453.3(FOXC1):c.143C>A (p.Ser48Ter) rs1408057194
NM_001453.3(FOXC1):c.1454T>C (p.Leu485Ser)
NM_001453.3(FOXC1):c.1458G>C (p.Ala486=)
NM_001453.3(FOXC1):c.1464GGC[3] (p.Ala493_Ala495del) rs747574884
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del) rs747574884
NM_001453.3(FOXC1):c.1464GGC[5] (p.Ala495del) rs747574884
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.1491C>G (p.Tyr497Ter) rs760676014
NM_001453.3(FOXC1):c.1492C>T (p.Pro498Ser)
NM_001453.3(FOXC1):c.1496G>C (p.Gly499Ala)
NM_001453.3(FOXC1):c.1508del (p.Asn503fs)
NM_001453.3(FOXC1):c.1509C>T (p.Asn503=)
NM_001453.3(FOXC1):c.1518G>A (p.Ser506=)
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.159C>G (p.Ala53=)
NM_001453.3(FOXC1):c.159C>T (p.Ala53=) rs374448293
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.163C>T (p.Gln55Ter)
NM_001453.3(FOXC1):c.173del (p.Gly58fs)
NM_001453.3(FOXC1):c.174del (p.Gly59fs) rs2113111101
NM_001453.3(FOXC1):c.175G>A (p.Gly59Ser)
NM_001453.3(FOXC1):c.176dup (p.Met60fs)
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.18C>G (p.Ser6=) rs1363320651
NM_001453.3(FOXC1):c.18C>T (p.Ser6=)
NM_001453.3(FOXC1):c.192C>G (p.Tyr64Ter) rs368260972
NM_001453.3(FOXC1):c.192C>T (p.Tyr64=)
NM_001453.3(FOXC1):c.198C>T (p.Pro66=)
NM_001453.3(FOXC1):c.205C>G (p.Pro69Ala) rs1762519905
NM_001453.3(FOXC1):c.206C>T (p.Pro69Leu)
NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)
NM_001453.3(FOXC1):c.223G>A (p.Asp75Asn)
NM_001453.3(FOXC1):c.27C>T (p.Ser9=)
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser) rs104893951
NM_001453.3(FOXC1):c.342C>T (p.Phe114=)
NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys) rs1581373749
NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)
NM_001453.3(FOXC1):c.354del (p.Asn118fs)
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.361G>A (p.Gly121Ser) rs1581373773
NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)
NM_001453.3(FOXC1):c.367C>T (p.Gln123Ter) rs1762522833
NM_001453.3(FOXC1):c.36C>G (p.Ser12=)
NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys) rs1762523183
NM_001453.3(FOXC1):c.372C>T (p.Asn124=)
NM_001453.3(FOXC1):c.378C>A (p.Ile126=)
NM_001453.3(FOXC1):c.380G>A (p.Arg127His) rs1085307884
NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu) rs1085307884
NM_001453.3(FOXC1):c.387C>A (p.Asn129Lys) rs751776784
NM_001453.3(FOXC1):c.387C>T (p.Asn129=)
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001453.3(FOXC1):c.389_392del (p.Leu130fs)
NM_001453.3(FOXC1):c.392C>G (p.Ser131Trp) rs104893957
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
NM_001453.3(FOXC1):c.395T>C (p.Leu132Pro)
NM_001453.3(FOXC1):c.399C>G (p.Asn133Lys) rs562467758
NM_001453.3(FOXC1):c.39G>A (p.Leu13=)
NM_001453.3(FOXC1):c.403T>A (p.Cys135Ser)
NM_001453.3(FOXC1):c.405C>A (p.Cys135Ter) rs2230096
NM_001453.3(FOXC1):c.407T>C (p.Phe136Ser)
NM_001453.3(FOXC1):c.409_411del (p.Val137del) rs1554100963
NM_001453.3(FOXC1):c.418C>T (p.Pro140Ser) rs777521814
NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)
NM_001453.3(FOXC1):c.440G>T (p.Gly147Val)
NM_001453.3(FOXC1):c.441C>G (p.Gly147=)
NM_001453.3(FOXC1):c.447C>T (p.Gly149=)
NM_001453.3(FOXC1):c.451dup (p.Tyr151fs) rs1762525473
NM_001453.3(FOXC1):c.453C>G (p.Tyr151Ter)
NM_001453.3(FOXC1):c.453C>T (p.Tyr151=)
NM_001453.3(FOXC1):c.456G>T (p.Trp152Cys) rs886041355
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro) rs1057519476
NM_001453.3(FOXC1):c.470A>T (p.Asp157Val)
NM_001453.3(FOXC1):c.474dup (p.Tyr159fs)
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del) rs2113111795
NM_001453.3(FOXC1):c.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)
NM_001453.3(FOXC1):c.493G>C (p.Gly165Arg)
NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)
NM_001453.3(FOXC1):c.4C>T (p.Gln2Ter) rs867581817
NM_001453.3(FOXC1):c.502del (p.Leu168fs)
NM_001453.3(FOXC1):c.504GCG[4] (p.Arg173del) rs1183655796
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup) rs1183655796
NM_001453.3(FOXC1):c.505C>G (p.Arg169Gly)
NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp) rs1581373890
NM_001453.3(FOXC1):c.509G>A (p.Arg170Gln) rs2113111855
NM_001453.3(FOXC1):c.51del (p.Tyr18fs) rs2113110720
NM_001453.3(FOXC1):c.523AAG[2] (p.Lys177del)
NM_001453.3(FOXC1):c.534C>T (p.Asp178=) rs755160620
NM_001453.3(FOXC1):c.536C>G (p.Ala179Gly) rs752984586
NM_001453.3(FOXC1):c.536C>T (p.Ala179Val)
NM_001453.3(FOXC1):c.543G>A (p.Lys181=)
NM_001453.3(FOXC1):c.548A>G (p.Lys183Arg)
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del) rs774823663
NM_001453.3(FOXC1):c.552G>A (p.Glu184=)
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.564G>A (p.Arg188=)
NM_001453.3(FOXC1):c.566T>A (p.Leu189Gln) rs1227876001
NM_001453.3(FOXC1):c.573C>T (p.Leu191=) rs545282380
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.591C>T (p.Pro197=) rs761021950
NM_001453.3(FOXC1):c.593_610del (p.Gly198_Pro203del) rs567719270
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs) rs1057519478
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.639G>T (p.Ala213=)
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.655C>T (p.Pro219Ser) rs746629785
NM_001453.3(FOXC1):c.65dup (p.Gln23fs)
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs) rs1057519479
NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter) rs104893952
NM_001453.3(FOXC1):c.683C>T (p.Thr228Ile)
NM_001453.3(FOXC1):c.684C>A (p.Thr228=)
NM_001453.3(FOXC1):c.693T>C (p.Gly231=)
NM_001453.3(FOXC1):c.712C>T (p.Gln238Ter) rs2113112422
NM_001453.3(FOXC1):c.712dup (p.Gln238fs) rs1762534894
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.725C>T (p.Pro242Leu)
NM_001453.3(FOXC1):c.727G>T (p.Ala243Ser)
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.736C>T (p.Leu246=) rs1282700439
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.752_759del (p.Ala251fs) rs1762536800
NM_001453.3(FOXC1):c.753C>T (p.Ala251=) rs1554100998
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>G (p.Ala252=)
NM_001453.3(FOXC1):c.756C>T (p.Ala252=)
NM_001453.3(FOXC1):c.768G>T (p.Lys256Asn)
NM_001453.3(FOXC1):c.772G>T (p.Glu258Ter) rs1554101000
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.793_1196dup (p.Ala399_Met400insAlaAlaCysProAlaGlyAlaAlaProArgAlaAlaCysArgArgArgGlyArgSerAlaTrpThrValArgIleProArgArgArgArgProArgProProProArgArgArgThrIleAlaArgAlaSerAlaTrpThrThrSerTer)
NM_001453.3(FOXC1):c.796dup (p.Ser266fs)
NM_001453.3(FOXC1):c.802_803delinsCA (p.Ser268His) rs2113112684
NM_001453.3(FOXC1):c.804C>G (p.Ser268=) rs1040137792
NM_001453.3(FOXC1):c.807C>T (p.Ser269=)
NM_001453.3(FOXC1):c.816C>A (p.Ser272Arg)
NM_001453.3(FOXC1):c.816_817delinsA (p.Ser272fs)
NM_001453.3(FOXC1):c.818C>T (p.Pro273Leu)
NM_001453.3(FOXC1):c.819C>A (p.Pro273=) rs931714808
NM_001453.3(FOXC1):c.81_100del (p.Ala28fs) rs2113110795
NM_001453.3(FOXC1):c.821del (p.Pro274fs)
NM_001453.3(FOXC1):c.821dup (p.Ser276fs) rs2113112720
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001453.3(FOXC1):c.846G>A (p.Pro282=) rs1261991191
NM_001453.3(FOXC1):c.868T>G (p.Ser290Ala)
NM_001453.3(FOXC1):c.869C>A (p.Ser290Tyr) rs775681400
NM_001453.3(FOXC1):c.873G>A (p.Ala291=)
NM_001453.3(FOXC1):c.888G>T (p.Ala296=)
NM_001453.3(FOXC1):c.895G>A (p.Ala299Thr)
NM_001453.3(FOXC1):c.906G>T (p.Pro302=) rs1262103111
NM_001453.3(FOXC1):c.90C>G (p.Ala30=) rs1333340503
NM_001453.3(FOXC1):c.90del (p.Ala31fs)
NM_001453.3(FOXC1):c.915_918dup (p.Gly307fs)
NM_001453.3(FOXC1):c.925_949del (p.Ser309fs) rs1057519481
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.930G>A (p.Val310=)
NM_001453.3(FOXC1):c.934A>G (p.Asn312Asp)
NM_001453.3(FOXC1):c.936C>T (p.Asn312=)
NM_001453.3(FOXC1):c.955G>A (p.Gly319Arg)
NM_001453.3(FOXC1):c.957del (p.Ser320fs) rs1241813534
NM_001453.3(FOXC1):c.961C>T (p.Pro321Ser)
NM_001453.3(FOXC1):c.962C>T (p.Pro321Leu)
NM_001453.3(FOXC1):c.965_977dup (p.Leu328fs)
NM_001453.3(FOXC1):c.973_976dup (p.Ala326fs)
NM_001453.3(FOXC1):c.975C>T (p.Ala325=)
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.993C>T (p.Gly331=)
NM_001453.3(FOXC1):c.995T>C (p.Leu332Pro)
NM_001453.3(FOXC1):c.99_108del (p.Gly34fs) rs2113110837

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