ClinVar Miner

List of variants reported as pathogenic for Osteogenesis imperfecta type I by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1354-12G>A rs72648337 0.00001
NM_000088.4(COL1A1):c.1228G>A (p.Gly410Ser) rs72648324
NM_000088.4(COL1A1):c.131_132del (p.Gly44fs)
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter) rs72648343
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173

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