ClinVar Miner

List of variants reported as likely pathogenic for Osteogenesis imperfecta type I by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
NM_000088.4(COL1A1):c.370-2A>T
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val) rs1907723511
NM_000089.4(COL1A2):c.604G>A (p.Gly202Ser) rs72656376
NM_000089.4(COL1A2):c.776G>A (p.Gly259Asp) rs1584318648

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