ClinVar Miner

List of variants studied for eye carcinoma by OMIM

Included ClinVar conditions (11):

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 2
Aniridia 3
Foveal hypoplasia 1
Foveal hypoplasia 1; Irido-corneo-trabecular dysgenesis
Isolated optic nerve hypoplasia
Optic nerve hypoplasia
PAX6-related ocular dysgenesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.10+5G>C	rs587776572
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)	rs121907918
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)	rs121907924
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)	rs886039241

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