ClinVar Miner

List of variants in gene PAX6 studied for coloboma

Included ClinVar conditions (40):

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; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Astigmatism; Congenital ocular coloboma; Patent foramen ovale; Premature birth; Abnormality of the face
Autism; Motor delay; Iris coloboma; Delayed speech and language development; Abnormality of vision
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
Coloboma, ocular, autosomal dominant
Coloboma, ocular, autosomal recessive
Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay
Congenital ocular coloboma
Congenital ocular coloboma; Congenital heart disease; Failure to thrive; Horseshoe kidney; Microcephaly; Dysmorphism; Hearing loss; imperforated anus; bilateral optic disc gliosis; Sacral dysplasia; Seziures
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Kidney damage; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe
Congenital ocular coloboma; Microphthalmia
Congenital ocular coloboma; Microphthalmia; Dysplastic corpus callosum
Congenital ocular coloboma; Overgrowth; Macrocephaly; Large hands; Congenital anomaly of face; Learning disability
Congenital ocular coloboma; intellectual deficiency; Hypotonia
Epicanthus; Hypertelorism; Esotropia; High palate; Low-set ears; EEG abnormality; Iris coloboma; Nystagmus; Microphthalmia; Short neck; Amblyopia; Abnormality of visual evoked potentials; Lens subluxation
Familial pseudohyperkalemia; Langereis blood group; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3
Familial pseudohyperkalemia; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3
Global developmental delay; Seizure; Abnormal corpus callosum morphology; Microphthalmia, isolated, with coloboma
Holoprosencephaly 3; Microphthalmia, isolated, with coloboma 5; Solitary median maxillary central incisor syndrome; Schizencephaly
Hypertelorism; Congenital cleft nose; Low-set ears; Tessier cleft; Facial asymmetry; Upper eyelid coloboma; Limbal dermoid; Pericallosal lipoma; Skin tags; Abnormal frontal bone morphology
Hypertelorism; Congenital ocular coloboma; Abnormal facial shape; Wide nose; Epicanthus inversus; Congenital ptosis; Midface retrusion
Iris coloboma
Iris coloboma; Nystagmus; Generalized hypotonia; Cerebellar vermis hypoplasia
Isolated microphthalmia 2; Microphthalmia, isolated, with coloboma 3
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Multiple synostoses syndrome 4
Klippel-Feil syndrome 3, autosomal dominant; Isolated microphthalmia 7; Microphthalmia, isolated, with coloboma 6
MICROPHTHALMIA, SYNDROMIC 15
Microphthalmia, isolated, with coloboma 10
Microphthalmia, isolated, with coloboma 3
Microphthalmia, isolated, with coloboma 5
Microphthalmia, isolated, with coloboma 6
Microphthalmia, isolated, with coloboma 7
Microphthalmia, isolated, with coloboma 8
Microphthalmia, isolated, with coloboma 9
Microphthalmia/coloboma 11

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001368894.2(PAX6):c.1074+139C>T	rs1019883076	0.00003
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)	rs397514640
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val)	rs1230504203
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)	rs1949622831
NM_001368894.2(PAX6):c.142-3T>C
NM_001368894.2(PAX6):c.202A>C (p.Ser68Arg)
NM_001368894.2(PAX6):c.204T>G (p.Ser68Arg)
NM_001368894.2(PAX6):c.244C>T (p.Pro82Ser)	rs121907923
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)	rs759557055
NM_001368894.2(PAX6):c.414C>A (p.Asn138Lys)
NM_001368894.2(PAX6):c.414C>G (p.Asn138Lys)
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)	rs747077748
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly)	rs121907913
NM_001368894.2(PAX6):c.77G>A (p.Arg26Gln)
NM_001368894.2(PAX6):c.809T>C (p.Val270Ala)
NM_001368894.2(PAX6):c.815T>C (p.Phe272Ser)	rs121907925
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	rs886041222

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