ClinVar Miner

List of variants in gene ELP4, PAX6 studied for coloboma of optic nerve

Included ClinVar conditions (5):

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
Coloboma of optic nerve
Coloboma of optic nerve; Piebaldism; Unsteady gait; Conductive hearing impairment; Hyperpigmentation of the skin; Bruising susceptibility; Hypopigmented skin patches; Intellectual disability, mild; Joint laxity; Bulbous tips of toes; White forelock; Abnormality of thyroid physiology; Reduced visual acuity; Lower limb asymmetry; Hyperconvex toenail; Ventricular septal defect
Coloboma of optic nerve; Seizure; Choreoathetosis; Polymicrogyria; Intellectual disability; Abnormality of neuronal migration; Cerebellar dysplasia; Chorioretinal lacunae; Neurodevelopmental delay

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.20_21del (p.Ter437=)	rs759391101
NM_001368894.2(PAX6):c.*21dup (p.Ter437=)	rs759391101
NM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys)	rs755181141
NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs)	rs757946805
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	rs121907922

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