ClinVar Miner

List of variants in gene TGFBR2 reported as benign for Loeys-Dietz syndrome

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Total variants: 13
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HGVS dbSNP
NM_003242.5(TGFBR2):c.*1521G>A rs11466533
NM_003242.5(TGFBR2):c.*1809A>G rs6550008
NM_003242.5(TGFBR2):c.*2065C>T rs11466536
NM_003242.5(TGFBR2):c.*2085T>A rs11466537
NM_003242.5(TGFBR2):c.*2248dupT rs34914516
NM_003242.5(TGFBR2):c.*747C>G rs11466531
NM_003242.5(TGFBR2):c.-128C>G rs2306856
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1167C>T (p.Asn389=) rs2228048
NM_003242.5(TGFBR2):c.1266A>G (p.Ala422=) rs2228047
NM_003242.5(TGFBR2):c.263+7A>G rs1155705
NM_003242.5(TGFBR2):c.455-4T>A rs11466512
NM_003242.5(TGFBR2):c.999A>G (p.Leu333=) rs2229102

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