ClinVar Miner

List of variants studied for Thoracic aortic aneurysm by Cohesion Phenomics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34810
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_001613.4(ACTA2):c.370-19T>C rs714887 0.08887
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03644
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03431
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445

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