ClinVar Miner

List of variants in gene TGFB2 reported as pathogenic for Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.1023C>A (p.Tyr341Ter) rs1553303357
NM_003238.6(TGFB2):c.194dup (p.Glu66fs) rs2102527595
NM_003238.6(TGFB2):c.280del (p.Ser94fs) rs1553292123
NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer)
NM_003238.6(TGFB2):c.375_378del (p.Tyr126fs)
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.41_42insTATCT (p.Val15fs)
NM_003238.6(TGFB2):c.450_451del (p.Arg150fs)
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs) rs1064796256
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903

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