ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Total variants: 3
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NM_000088.3(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.3(COL1A1):c.3141_3149TCCTGGTGC[1] (p.1047_1049APG[2]) rs74315111
NM_000088.3(COL1A1):c.3443G>A (p.Gly1148Asp) rs1131692320

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