ClinVar Miner

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

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NC_000006.11:g.(?_1609367)_(1610939_?)del
NC_000006.11:g.(?_1610666)_(1612017_?)del
NC_000006.11:g.(?_1610681)_(1612342_?)del
NC_000006.12:g.(?_1610426)_(1612841_?)del
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.1149_1158dup (p.Ala387fs)
NM_001453.3(FOXC1):c.1157dup (p.Ala387fs)
NM_001453.3(FOXC1):c.1179C>G (p.Tyr393Ter)
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.143C>A (p.Ser48Ter) rs1408057194
NM_001453.3(FOXC1):c.163C>T (p.Gln55Ter)
NM_001453.3(FOXC1):c.173del (p.Gly58fs)
NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs)
NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)
NM_001453.3(FOXC1):c.244dup (p.Ser82fs) rs2113111289
NM_001453.3(FOXC1):c.249C>A (p.Tyr83Ter)
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001453.3(FOXC1):c.256_267del (p.Leu86_Met89del) rs2113111322
NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)
NM_001453.3(FOXC1):c.275A>C (p.Gln92Pro) rs2113111355
NM_001453.3(FOXC1):c.301_331del (p.Leu101fs) rs1762521548
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter) rs1057519475
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.367C>T (p.Gln123Ter) rs1762522833
NM_001453.3(FOXC1):c.380G>A (p.Arg127His) rs1085307884
NM_001453.3(FOXC1):c.389_392del (p.Leu130fs)
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
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.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.487_488insGCATGTAGG (p.Glu163delinsGlyMetTer)
NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp) rs1581373890
NM_001453.3(FOXC1):c.51del (p.Tyr18fs) rs2113110720
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.81_100del (p.Ala28fs) rs2113110795
NM_001453.3(FOXC1):c.821dup (p.Ser276fs) rs2113112720
NM_001453.3(FOXC1):c.915_918dup (p.Gly307fs)
NM_001453.3(FOXC1):c.957del (p.Ser320fs) rs1241813534
NM_001453.3(FOXC1):c.973_976dup (p.Ala326fs)

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