ClinVar Miner

List of variants reported as uncertain significance for coloboma, ocular, autosomal dominant by Eye Genetics Research Group, Children's Medical Research Institute

Included ClinVar conditions (17):

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
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, ocular, autosomal dominant
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
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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)	rs57865060	0.00478
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	rs9282671	0.00362
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)	rs548358901	0.00264
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)	rs150800688	0.00072
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	rs587778875
NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser)	rs557601555

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