ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003242.6(TGFBR2):c.-8G>A rs727504344
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1082_1084del (p.Leu361del) rs727503474
NM_003242.6(TGFBR2):c.118G>A (p.Asp40Asn) rs397516837
NM_003242.6(TGFBR2):c.1282G>C (p.Glu428Gln) rs397516838
NM_003242.6(TGFBR2):c.1418C>A (p.Pro473Gln) rs397516839
NM_003242.6(TGFBR2):c.1570G>T (p.Asp524Tyr) rs727504421
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.934G>A (p.Glu312Lys) rs397516841

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