ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic by GeneDx

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Total variants: 9
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HGVS dbSNP
NM_000088.3(COL1A1):c.1155+3_1155+6delAAGT rs72648316
NM_000088.3(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.3(COL1A1):c.1547delC (p.Pro516Leufs) rs1555573734
NM_000088.3(COL1A1):c.1635_1643delCAGCCCTGG (p.Ser546_Gly548del) rs1064796341
NM_000088.3(COL1A1):c.2049_2050delCG (p.Glu684Alafs) rs1555573111
NM_000088.3(COL1A1):c.3099+1G>A rs1555572316
NM_000088.3(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.4245C>A (p.Cys1415Ter) rs1555571589

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