ClinVar Miner

List of variants studied for aniridia by Institute of Human Genetics, University of Leipzig Medical Center

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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Minimum conflict level: Report conflict between different conditions
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter)	rs1237278944
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)	rs2135147324
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)	rs1131692304

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