ClinVar Miner

List of variants in gene COL1A1 reported by Baylor Miraca Genetics Laboratories,

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Total variants: 9
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HGVS dbSNP
NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.3(COL1A1):c.1862_1865delCCCC (p.Pro621Leufs) rs72651620
NM_000088.3(COL1A1):c.2164G>A (p.Gly722Ser)
NM_000088.3(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.3(COL1A1):c.3425G>T (p.Gly1142Val)
NM_000088.3(COL1A1):c.4339delG (p.Val1447Leufs)
NM_000088.3(COL1A1):c.801_802delCA (p.His267Glnfs)
NM_000088.3(COL1A1):c.887G>C (p.Gly296Ala)

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