ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance for Connective tissue disorder

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Total variants: 5
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HGVS dbSNP
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1924-8C>A rs1553508534
NM_000090.3(COL3A1):c.3526-10C>T rs376171095
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783

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