ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic for Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta type I

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Total variants: 1
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HGVS dbSNP
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303

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