ClinVar Miner

List of variants in gene TGFBR2 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472

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