ClinVar Miner

List of variants in gene COL1A1 studied for Hypertelorism; Skeletal dysplasia; Cranial asymmetry; Pathologic fracture; Abnormality of the pinna; 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; Fractures of the long bones; Craniofacial disproportion; Decreased calvarial ossification; Crumpled long bones; Maternal hypertension; Rhizomelia; Neonatal short-limb short stature; Wide cranial sutures; Neonatal asphyxia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965

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