ClinVar Miner

List of variants reported as likely pathogenic for Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 by Invitae

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000004.11:g.(?_111539261)_(111543636_?)del
NC_000004.12:g.(?_110618181)_(110621345_?)del
NM_000325.6(PITX2):c.361dup (p.Thr121fs) rs1553922891
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) rs1057519485

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