ClinVar Miner

List of variants in gene PITX2 reported as pathogenic for Axenfeld-Rieger syndrome type 1

Included ClinVar conditions (3):
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Gene type:
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Total variants: 24
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HGVS dbSNP
NC_000004.12:g.(?_110618049)_(110622472_?)del
NC_000004.12:g.(?_110618105)_(110633018_?)del
NM_000325.6(PITX2):c.264del (p.Lys89fs)
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.350C>T (p.Pro117Leu) rs1057519484
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) rs104893858
NM_000325.6(PITX2):c.373del (p.Ile125fs)
NM_000325.6(PITX2):c.383G>A (p.Trp128Ter)
NM_000325.6(PITX2):c.406G>C (p.Val136Leu) rs121909249
NM_000325.6(PITX2):c.411+1G>A
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.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) rs387906810
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) rs104893859
NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer)
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) rs1578446544
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) rs104893860
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.807T>A (p.Cys269Ter) rs1057519489
PITX2, 21-BP DUP, NT713

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