ClinVar Miner

List of variants reported as pathogenic for Axenfeld-Rieger syndrome type 1 by Molecular Pathology, SA Pathology

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Total variants: 7
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GRCh37/hg19 4q25(chr4:111528916-111888401)x1
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.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

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