ClinVar Miner

List of variants reported as pathogenic for Osteogenesis imperfecta type I by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1299+5G>A	rs193922139
NM_000088.4(COL1A1):c.2684del (p.Pro895fs)	rs72653151
NM_000088.4(COL1A1):c.2793del (p.Gly932fs)	rs1906866028

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