ClinVar Miner

List of variants studied for PAX6-related ocular dysgenesis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):

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
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
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)	rs1949622831
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	rs121907922
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)	rs747077748
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	rs886041222

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