ClinVar Miner

List of variants in gene FOXC1 studied for anterior segment dysgenesis 3

Included ClinVar conditions (3):
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Gene type:
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Total variants: 54
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HGVS dbSNP
FOXC1, 11-BP DEL
FOXC1, 22-BP INS, NT26
FOXC1, DUP
NC_000006.12:g.(?_1610426)_(1612841_?)del
NC_000006.12:g.(?_1610445)_(1612107_?)del
NM_001453.2(FOXC1):c.100_109delGGGGGCGGCT (p.Gly34Thrfs) rs1057519471
NM_001453.2(FOXC1):c.116_123delCCATGCCG (p.Ala39Glyfs) rs1057519472
NM_001453.2(FOXC1):c.1_*1790del
NM_001453.2(FOXC1):c.349delG (p.Asp117Thrfs) rs1554100953
NM_001453.2(FOXC1):c.409_411delGTC (p.Val137del) rs1554100963
NM_001453.2(FOXC1):c.599_617del19 (p.Gln200Argfs) rs1057519478
NM_001453.2(FOXC1):c.666_681del16 (p.Ile223Profs) rs1057519479
NM_001453.2(FOXC1):c.718_719delCT (p.Leu240Valfs) rs1057519480
NM_001453.2(FOXC1):c.925_949del25 (p.Ser309Cysfs) rs1057519481
NM_001453.2(FOXC1):c.92_100delCGGCGGCCG (p.Ala31_Ala33del) rs756196843
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg) rs897755884
NM_001453.3(FOXC1):c.1142_1144delCGGinsGCGC (p.Ala381Glyfs) rs1554101058
NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu) rs1215019381
NM_001453.3(FOXC1):c.1189C>T (p.Leu397=) rs771039137
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter) rs1057519482
NM_001453.3(FOXC1):c.1356_1361dup (p.Gly456_Gln457insGlyGly) rs398123612
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg)
NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter) rs372857241
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter) rs760676014
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=) rs73406891
NM_001453.3(FOXC1):c.192C>G (p.Tyr64Ter) rs368260972
NM_001453.3(FOXC1):c.216G>A (p.Gln72=) rs200040370
NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser) rs1554100945
NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr) rs104893953
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) rs104893954
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.316C>T (p.Gln106Ter) rs1057519475
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser) rs104893951
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg) rs759264099
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.375C>T (p.Ser125=) rs765626020
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) rs104893958
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.388C>T (p.Leu130Phe) rs121909338
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro) rs1057519476
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) rs1057519477
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656
NM_001453.3(FOXC1):c.516_518dup (p.Arg173_Phe174insArg)
NM_001453.3(FOXC1):c.532G>C (p.Asp178His) rs751970827
NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter) rs104893952
NM_001453.3(FOXC1):c.753C>T (p.Ala251=) rs1554100998
NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg) rs1277775861
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946
NM_001453.3(FOXC1):c.957del (p.Ser320Argfs) rs1241813534

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