ClinVar Miner

List of variants in gene TGFBR2 reported as pathogenic for Thoracic aortic aneurysm and aortic dissection

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Total variants: 14
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HGVS dbSNP
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) rs727504292
NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr) rs886039106
NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys) rs878854610
NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys) rs104893807
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu) rs104893816
NM_003242.6(TGFBR2):c.1397-1G>A rs1553631693
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1524+1G>T rs727503475
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809

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