ClinVar Miner

List of variants in gene COL1A1 reported by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.4(COL1A1):c.2858G>T (p.Gly953Val)
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp) rs1131692320
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326

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