ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.3(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
NM_000088.3(COL1A1):c.3425G>T (p.Gly1142Val) rs1567753448
NM_000088.3(COL1A1):c.4339del (p.Val1447fs) rs1567751388
NM_000088.3(COL1A1):c.887G>C (p.Gly296Ala) rs1567761800

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