ClinVar Miner

List of variants in gene COL3A1 reported as likely pathogenic for Thoracic aortic aneurysm and aortic dissection

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Total variants: 4
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NM_000090.3(COL3A1):c.1178G>A (p.Gly393Asp) rs1553507867
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.3093+1G>T rs869312034

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