ClinVar Miner

List of variants studied for Osteogenesis imperfecta type I by Institute of Human Genetics, Cologne University

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000088.3(COL1A1):c.3124_3160del (p.Ala1042fs) rs1567754589
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter) rs72651648
NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser) rs765659555
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val) rs67828806
NM_000088.4(COL1A1):c.805-1G>A rs1598298699
NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys) rs1584320553
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val) rs1791951769
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp) rs1792108270
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val) rs1131692167

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