ClinVar Miner

List of variants in gene FOXC1 reported as pathogenic for anterior segment dysgenesis

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
FOXC1, 22-BP INS, NT26
FOXC1, DUP
NC_000006.11:g.(?_1609367)_(1610939_?)del
NC_000006.11:g.(?_1610666)_(1612017_?)del
NC_000006.11:g.(?_1610681)_(1612342_?)del
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs) rs1057519471
NM_001453.3(FOXC1):c.104_105insT (p.Gly36fs)
NM_001453.3(FOXC1):c.104del (p.Gly35fs)
NM_001453.3(FOXC1):c.1140dup (p.Ala381fs)
NM_001453.3(FOXC1):c.1141dup (p.Ala381fs)
NM_001453.3(FOXC1):c.1149_1158dup (p.Ala387fs)
NM_001453.3(FOXC1):c.1157dup (p.Ala387fs)
NM_001453.3(FOXC1):c.116_123del (p.Ala39fs) rs1057519472
NM_001453.3(FOXC1):c.1179C>G (p.Tyr393Ter)
NM_001453.3(FOXC1):c.1193_1196dup (p.Met400fs)
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter) rs1057519482
NM_001453.3(FOXC1):c.135dup (p.Val46fs)
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.143C>A (p.Ser48Ter) rs1408057194
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter) rs760676014
NM_001453.3(FOXC1):c.1508del (p.Asn503fs)
NM_001453.3(FOXC1):c.153_163del (p.His52fs) rs2113111009
NM_001453.3(FOXC1):c.163C>T (p.Gln55Ter)
NM_001453.3(FOXC1):c.173del (p.Gly58fs)
NM_001453.3(FOXC1):c.176dup (p.Met60fs)
NM_001453.3(FOXC1):c.192C>G (p.Tyr64Ter) rs368260972
NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser) rs104893951
NM_001453.3(FOXC1):c.349del (p.Asp117fs) rs1554100953
NM_001453.3(FOXC1):c.354del (p.Asn118fs)
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.366G>A (p.Trp122Ter)
NM_001453.3(FOXC1):c.367C>T (p.Gln123Ter) rs1762522833
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.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.398_401del (p.Asn133fs) rs2113111662
NM_001453.3(FOXC1):c.399C>G (p.Asn133Lys) rs562467758
NM_001453.3(FOXC1):c.405C>A (p.Cys135Ter) rs2230096
NM_001453.3(FOXC1):c.409_411del (p.Val137del) rs1554100963
NM_001453.3(FOXC1):c.451dup (p.Tyr151fs) rs1762525473
NM_001453.3(FOXC1):c.453C>G (p.Tyr151Ter)
NM_001453.3(FOXC1):c.474dup (p.Tyr159fs)
NM_001453.3(FOXC1):c.478_482dup (p.Met161fs) rs1762526126
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) rs1057519477
NM_001453.3(FOXC1):c.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)
NM_001453.3(FOXC1):c.502del (p.Leu168fs)
NM_001453.3(FOXC1):c.504GCG[4] (p.Arg173del) rs1183655796
NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp) rs1581373890
NM_001453.3(FOXC1):c.51del (p.Tyr18fs) rs2113110720
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs) rs1057519478
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.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.752_759del (p.Ala251fs) rs1762536800
NM_001453.3(FOXC1):c.772G>T (p.Glu258Ter) rs1554101000
NM_001453.3(FOXC1):c.793_1196dup (p.Ala399_Met400insAlaAlaCysProAlaGlyAlaAlaProArgAlaAlaCysArgArgArgGlyArgSerAlaTrpThrValArgIleProArgArgArgArgProArgProProProArgArgArgThrIleAlaArgAlaSerAlaTrpThrThrSerTer)
NM_001453.3(FOXC1):c.796dup (p.Ser266fs)
NM_001453.3(FOXC1):c.816_817delinsA (p.Ser272fs)
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.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.957del (p.Ser320fs) rs1241813534
NM_001453.3(FOXC1):c.965_977dup (p.Leu328fs)
NM_001453.3(FOXC1):c.973_976dup (p.Ala326fs)
NM_001453.3(FOXC1):c.99_108del (p.Gly34fs) rs2113110837

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