ClinVar Miner

List of variants reported as pathogenic for Axenfeld-Rieger syndrome type 1

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
NC_000004.11:g.(?_111539281)_(111554154_?)del
NC_000004.12:g.(?_110618049)_(110622472_?)del
NC_000004.12:g.(?_110618105)_(110633018_?)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)

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