ClinVar Miner

List of variants studied for Osteogenesis imperfecta type I by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00020
NM_000088.4(COL1A1):c.3245del (p.Gly1082fs) rs1555572161
NM_000089.4(COL1A2):c.433-3T>G rs1554395470

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