ClinVar Miner

List of variants in gene COL1A2 reported as pathogenic for Osteogenesis imperfecta

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser) rs72656392 0.00001
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg) rs2115898280
NM_000089.4(COL1A2):c.1414G>C (p.Gly472Arg) rs121912906
NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp) rs1584322496
NM_000089.4(COL1A2):c.1676G>A (p.Gly559Asp)
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys) rs72658173
NM_000089.4(COL1A2):c.2314G>T (p.Gly772Cys) rs72658185
NM_000089.4(COL1A2):c.2396G>A (p.Gly799Glu) rs2115937116
NM_000089.4(COL1A2):c.2503G>A (p.Gly835Ser) rs72658193
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser) rs72658200
NM_000089.4(COL1A2):c.2684G>A (p.Gly895Asp) rs72659305
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.595-2A>G rs72656375
NM_000089.4(COL1A2):c.957_974dup (p.Ala320_Gly325dup) rs1791878922
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022

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