ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2452-23del rs146899953 0.00427
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000088.4(COL1A1):c.2451+14C>A
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.4(COL1A1):c.4006-9C>T rs193922156

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