ClinVar Miner

List of variants reported as pathogenic for Axenfeld-Rieger syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
GRCh37/hg19 6p25.3(chr6:491126-1624775)
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1
NC_000004.11:g.(?_111539281)_(111554154_?)del
NC_000004.12:g.(?_110618049)_(110622472_?)del
NC_000004.12:g.(?_110618105)_(110633018_?)del
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
NC_000006.12:g.(?_1610445)_(1612107_?)del
NM_000325.6(PITX2):c.220C>T (p.Gln74Ter)
NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)
NM_000325.6(PITX2):c.264del (p.Lys89fs) rs1729007624
NM_000325.6(PITX2):c.286C>T (p.Arg96Trp) rs2110435742
NM_000325.6(PITX2):c.289_309dup (p.Gln103_Leu104insThrHisPheThrSerGlnGln)
NM_000325.6(PITX2):c.293dup (p.His98fs)
NM_000325.6(PITX2):c.302_303del (p.Ser101fs)
NM_000325.6(PITX2):c.316G>T (p.Glu106Ter) rs1051887
NM_000325.6(PITX2):c.320T>A (p.Leu107Gln) rs104893857
NM_000325.6(PITX2):c.343_364del (p.Arg115fs) rs1057519483
NM_000325.6(PITX2):c.344G>A (p.Arg115His) rs104893862
NM_000325.6(PITX2):c.350C>G (p.Pro117Arg)
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) rs1057519484
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) rs104893858
NM_000325.6(PITX2):c.373del (p.Ile125fs) rs1729001104
NM_000325.6(PITX2):c.376G>C (p.Ala126Pro)
NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) rs1729000976
NM_000325.6(PITX2):c.384G>A (p.Trp128Ter)
NM_000325.6(PITX2):c.406G>C (p.Val136Leu) rs121909249
NM_000325.6(PITX2):c.411+1G>A rs1728998905
NM_000325.6(PITX2):c.411+2T>G rs1578450728
NM_000325.6(PITX2):c.411+5G>C rs1560590094
NM_000325.6(PITX2):c.412-11A>G rs1198152064
NM_000325.6(PITX2):c.412-1G>A
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.417G>T (p.Trp139Cys)
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) rs387906810
NM_000325.6(PITX2):c.428G>C (p.Arg143Pro)
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) rs104893859
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) rs104893859
NM_000325.6(PITX2):c.448_449del (p.Arg150fs) rs2110432091
NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter)
NM_000325.6(PITX2):c.503_506del (p.Asn168fs)
NM_000325.6(PITX2):c.515del (p.Gln172fs)
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) rs951710742
NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer) rs1728873590
NM_000325.6(PITX2):c.525del (p.Asp175fs)
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) rs1578446544
NM_000325.6(PITX2):c.557G>A (p.Trp186Ter)
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) rs104893860
NM_000325.6(PITX2):c.663del (p.Asn222fs)
NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer) rs2110431524
NM_000325.6(PITX2):c.714_735del (p.Thr239fs) rs1057519487
NM_000325.6(PITX2):c.784_785del (p.Ser262fs) rs1057519488
NM_000325.6(PITX2):c.790del (p.Val264fs)
NM_000325.6(PITX2):c.791_792dup (p.Pro265fs)
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) rs1057519489
NM_000325.6(PITX2):c.867_889del (p.Ser290fs)
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.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.1_*1790del (p.Met1fs)
NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter)
NM_001453.3(FOXC1):c.241T>C (p.Tyr81His)
NM_001453.3(FOXC1):c.244dup (p.Ser82fs) rs2113111289
NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr) rs104893953
NM_001453.3(FOXC1):c.246C>A (p.Ser82Arg) rs376405759
NM_001453.3(FOXC1):c.246C>G (p.Ser82Arg) rs376405759
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.257T>G (p.Leu86Arg)
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.335T>C (p.Phe112Ser) rs104893951
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.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.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.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
Single allele
der(6)t(6;10)(p25.2;q26.3)

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