ClinVar Miner

List of variants in gene COL3A1 reported as pathogenic for Cardiovascular phenotype

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Total variants: 14
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NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
NM_000090.3(COL3A1):c.2221G>T (p.Gly741Cys) rs587779685
NM_000090.3(COL3A1):c.2392-2A>C rs1553508957
NM_000090.3(COL3A1):c.2642del (p.Pro881fs) rs886038920
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.3(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu) rs886038925
NM_000090.3(COL3A1):c.3966_3972delinsTT (p.Glu1322fs) rs1553509869
NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.3(COL3A1):c.712C>T (p.Arg238Ter) rs1393544920
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) rs587779687

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