ClinVar Miner

List of variants in gene PAX6 reported as likely pathogenic for PAX6-related ocular dysgenesis

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000280.4:c.1267A>T
NM_001368894.2(PAX6):c.10+5G>C	rs587776572
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)	rs397514640
NM_001368894.2(PAX6):c.142-3T>C	rs2496174697
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)	rs759557055
NM_001368894.2(PAX6):c.400G>A (p.Val134Met)	rs2496004464
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp)	rs121907919

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