ClinVar Miner

List of variants reported as pathogenic for isolated aniridia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (11):

Aniridia 1
Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Congenital ocular coloboma
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; Coloboma, ocular, autosomal dominant
Aniridia 1; Foveal hypoplasia 1; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Aniridia 1; Irido-corneo-trabecular dysgenesis
Aniridia 2
Aniridia 3
Cataract; Bilateral microphthalmos; Congenital aniridia
Congenital aniridia

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)	rs397514640
NM_001368894.2(PAX6):c.343del (p.Glu115fs)
NM_001368894.2(PAX6):c.399+1G>A	rs398123295

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