ClinVar Miner

List of variants reported as pathogenic for Cryptorchidism; Developmental cataract; Hypertrichosis; Abnormal corpus callosum morphology; Bilateral microphthalmos; Low-set ears; Spasticity; Absent speech; Rigidity; Thoracolumbar scoliosis; Humeral cortical thickening; Cortical thickening of humeral diaphysis; Cerebral hypomyelination; Congenital ptosis; Infantile axial hypotonia; Intellectual disability, severe; Cleft palate; Movement disorder by Human Genetics Department, Tarbiat Modares University

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_012233.3(RAB3GAP1):c.151-5T>G	rs1690127143

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