ClinVar Miner

List of variants studied for Hypertelorism; Skeletal dysplasia; Cranial asymmetry; Pathologic fracture; Abnormal pinna morphology; Anteverted nares; Blue sclerae; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Flat occiput; Premature birth; Triangular face; Wide anterior fontanel; Low-set, posteriorly rotated ears; Osteopenia; Generalized hypotonia; Bowing of limbs due to multiple fractures; Recurrent long bone fractures; Craniofacial disproportion; Decreased calvarial ossification; Crumpled long bones; Maternal hypertension; Rhizomelia; Neonatal short-limb short stature; Wide cranial sutures; Neonatal asphyxia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	rs66527965

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