ClinVar Miner

List of variants reported as uncertain significance for Axenfeld-Rieger syndrome type 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val) rs865901577 0.00026
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser) rs775345164 0.00017
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.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.808G>C (p.Gly270Arg) rs901581290 0.00007
NM_001453.3(FOXC1):c.1412C>G (p.Thr471Ser) rs758013827 0.00006
NM_001453.3(FOXC1):c.1337_1342dup (p.Gly447_Gly448insAspGly) rs756037576 0.00005
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.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_001453.3(FOXC1):c.1015T>C (p.Ser339Pro) rs1422224202 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.363C>T (p.Gly121=) rs752309038 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
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.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.268G>A (p.Ala90Thr) rs1057519473
NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp) rs1057519474
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.387C>A (p.Asn129Lys) rs751776784
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.418C>T (p.Pro140Ser) rs777521814
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.457A>C (p.Thr153Pro) rs1057519476
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.593_610del (p.Gly198_Pro203del) rs567719270
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.655C>T (p.Pro219Ser) rs746629785
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)

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.