ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic for Osteogenesis imperfecta type 1, mild

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Total variants: 2
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NM_000088.3(COL1A1):c.572G>C (p.Gly191Ala) rs67828806
NM_000088.3(COL1A1):c.661G>T (p.Gly221Cys) rs72667037

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