ClinVar Miner

List of variants reported as likely pathogenic for Osteogenesis imperfecta type I by Institute of Human Genetics, Cologne University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)	rs67828806
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val)	rs1791951769
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp)	rs1792108270

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