ClinVar Miner

List of variants reported as uncertain significance for Osteogenesis imperfecta type I by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.2215C>G (p.Pro739Ala) rs1282743605

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