ClinVar Miner

List of variants in gene COL1A1 studied for Inborn genetic diseases

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Total variants: 3
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NM_000088.3(COL1A1):c.1496_1497del (p.Asp499fs) rs1555573789
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.388G>T (p.Gly130Cys) rs1555575085

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