ClinVar Miner

List of variants reported as benign for coloboma by Genome-Nilou Lab

Included ClinVar conditions (42):

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
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
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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001080477.4(TENM3):c.3863-26G>C	rs13130747	0.55028
NM_000193.4(SHH):c.301-49G>A	rs1233555	0.48163
NM_001080477.4(TENM3):c.1791T>C (p.Ser597=)	rs2871328	0.41875
NM_182894.3(VSX2):c.471C>T (p.Ser157=)	rs35435463	0.38441
NM_001080477.4(TENM3):c.3379+25G>C	rs2309769	0.35017
NM_001080477.4(TENM3):c.3629+21G>A	rs7676674	0.34515
NM_001080477.4(TENM3):c.3957C>T (p.Gly1319=)	rs17263582	0.17773
NM_182894.3(VSX2):c.831G>A (p.Leu277=)	rs62006815	0.02860
NM_182894.3(VSX2):c.871G>A (p.Asp291Asn)	rs75395981	0.01619
NM_006744.4(RBP4):c.356-25G>C	rs12265684

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