ClinVar Miner

List of variants reported as pathogenic for sclerocornea by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (4):

Anterior segment dysgenesis 7
Developmental cataract; Microphthalmia; Sclerocornea; Cornea plana
Developmental cataract; Nystagmus; Microcornea; Sclerocornea
Epicanthus; Ebstein anomaly; Congenital ectopic pupil; Atrial septal defect; Motor delay; Visual impairment; Long palpebral fissure; Atrial septal defect, ostium secundum type; Mandibular prognathia; Broad forehead; Cyanosis; Premature birth; Shawl scrotum; Short neck; Short nose; Anterior synechiae of the anterior chamber; Square face; Long philtrum; Sclerocornea; Pulmonary artery stenosis; Respiratory failure requiring assisted ventilation; Corneal opacity; Prominent forehead; Mild global developmental delay; Generalized opacification of the cornea; Chin with horizontal crease; Wide nasal base

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs)	rs967959245	0.00001
NM_012293.3(PXDN):c.3609-1G>C	rs2546894357

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