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

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

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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=)

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