List of variants reported as likely benign for Axenfeld-Rieger syndrome type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 114

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001453.3(FOXC1):c.114C>T (p.Thr38=)	rs538126253	0.00104
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.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.78C>T (p.Tyr26=)	rs545478008	0.00014
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.252C>T (p.Ile84=)	rs751286982	0.00008
NM_001453.3(FOXC1):c.783C>T (p.Asp261=)	rs754761427	0.00007
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.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.1017C>T (p.Ser339=)	rs770183159	0.00002
NM_001453.3(FOXC1):c.1245G>T (p.Ala415=)	rs759491792	0.00002
NM_001453.3(FOXC1):c.1320C>G (p.Ser440Arg)	rs998203463	0.00002
NM_001453.3(FOXC1):c.147C>T (p.His49=)	rs1400944385	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.864G>A (p.Ala288=)	rs1477621509	0.00002
NM_001453.3(FOXC1):c.1038C>G (p.Pro346=)	rs1355905429	0.00001
NM_001453.3(FOXC1):c.1278C>T (p.Asp426=)	rs1011576688	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.306C>T (p.Asn102=)	rs750797555	0.00001
NM_001453.3(FOXC1):c.375C>T (p.Ser125=)	rs765626020	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.660C>T (p.Pro220=)	rs1438325732	0.00001
NM_001453.3(FOXC1):c.1020G>A (p.Ser340=)
NM_001453.3(FOXC1):c.1025C>G (p.Ala342Gly)
NM_001453.3(FOXC1):c.1029G>A (p.Gly343=)
NM_001453.3(FOXC1):c.1038C>T (p.Pro346=)
NM_001453.3(FOXC1):c.1050C>G (p.Leu350=)
NM_001453.3(FOXC1):c.1059C>T (p.Tyr353=)
NM_001453.3(FOXC1):c.105C>T (p.Gly35=)
NM_001453.3(FOXC1):c.1077C>T (p.Ser359=)
NM_001453.3(FOXC1):c.1089C>T (p.Ser363=)	rs1364012338
NM_001453.3(FOXC1):c.1113G>T (p.Ala371=)	rs1762548215
NM_001453.3(FOXC1):c.1137C>T (p.Gly379=)
NM_001453.3(FOXC1):c.1218C>G (p.Gly406=)
NM_001453.3(FOXC1):c.1245G>C (p.Ala415=)
NM_001453.3(FOXC1):c.1299G>A (p.Leu433=)
NM_001453.3(FOXC1):c.1326G>A (p.Ser442=)
NM_001453.3(FOXC1):c.1329C>T (p.Ser443=)
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.1362G>C (p.Gly454=)
NM_001453.3(FOXC1):c.1380C>T (p.Gly460=)
NM_001453.3(FOXC1):c.1458G>C (p.Ala486=)
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.1509C>T (p.Asn503=)
NM_001453.3(FOXC1):c.1518G>A (p.Ser506=)
NM_001453.3(FOXC1):c.159C>G (p.Ala53=)
NM_001453.3(FOXC1):c.159C>T (p.Ala53=)	rs374448293
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>T (p.Tyr64=)
NM_001453.3(FOXC1):c.198C>T (p.Pro66=)
NM_001453.3(FOXC1):c.246C>T (p.Ser82=)
NM_001453.3(FOXC1):c.261C>T (p.Ile87=)
NM_001453.3(FOXC1):c.264C>T (p.Thr88=)
NM_001453.3(FOXC1):c.27C>T (p.Ser9=)
NM_001453.3(FOXC1):c.309C>T (p.Gly103=)
NM_001453.3(FOXC1):c.315C>T (p.Tyr105=)
NM_001453.3(FOXC1):c.342C>T (p.Phe114=)
NM_001453.3(FOXC1):c.372C>T (p.Asn124=)
NM_001453.3(FOXC1):c.378C>A (p.Ile126=)
NM_001453.3(FOXC1):c.387C>T (p.Asn129=)
NM_001453.3(FOXC1):c.441C>G (p.Gly147=)
NM_001453.3(FOXC1):c.453C>T (p.Tyr151=)
NM_001453.3(FOXC1):c.534C>T (p.Asp178=)	rs755160620
NM_001453.3(FOXC1):c.543G>A (p.Lys181=)
NM_001453.3(FOXC1):c.552G>A (p.Glu184=)
NM_001453.3(FOXC1):c.564G>A (p.Arg188=)
NM_001453.3(FOXC1):c.591C>T (p.Pro197=)	rs761021950
NM_001453.3(FOXC1):c.684C>A (p.Thr228=)
NM_001453.3(FOXC1):c.693T>C (p.Gly231=)
NM_001453.3(FOXC1):c.727G>T (p.Ala243Ser)
NM_001453.3(FOXC1):c.736C>T (p.Leu246=)	rs1282700439
NM_001453.3(FOXC1):c.753C>T (p.Ala251=)	rs1554100998
NM_001453.3(FOXC1):c.756C>G (p.Ala252=)
NM_001453.3(FOXC1):c.804C>G (p.Ser268=)	rs1040137792
NM_001453.3(FOXC1):c.807C>T (p.Ser269=)
NM_001453.3(FOXC1):c.819C>A (p.Pro273=)	rs931714808
NM_001453.3(FOXC1):c.846G>A (p.Pro282=)	rs1261991191
NM_001453.3(FOXC1):c.873G>A (p.Ala291=)
NM_001453.3(FOXC1):c.888G>T (p.Ala296=)
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.930G>A (p.Val310=)
NM_001453.3(FOXC1):c.936C>T (p.Asn312=)
NM_001453.3(FOXC1):c.975C>T (p.Ala325=)
NM_001453.3(FOXC1):c.993C>T (p.Gly331=)

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.