ClinVar Miner

List of variants reported as pathogenic for isolated optic nerve hypoplasia

Included ClinVar conditions (6):

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
Isolated optic nerve hypoplasia
Optic nerve hypoplasia

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	rs121907922
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)	rs121907924
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	rs886041222
NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)	rs1555303073
Single allele

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