ClinVar Miner

List of variants in gene TGFB2 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.1086+2T>C rs1660010402
NM_003238.6(TGFB2):c.1140C>G (p.Cys380Trp) rs201129153
NM_003238.6(TGFB2):c.156del (p.Pro54fs) rs1131691744
NM_003238.6(TGFB2):c.346+1G>A rs1553292145
NM_003238.6(TGFB2):c.419del (p.Asn140fs) rs1057518597
NM_003238.6(TGFB2):c.463C>T (p.Gln155Ter) rs1425658948
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) rs730880221
NM_003238.6(TGFB2):c.644-2A>G rs1057518029
NM_003238.6(TGFB2):c.644_645insT (p.Arg216fs) rs863223795
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser) rs869312903
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.932G>A (p.Arg311Lys) rs1064793278
NM_003238.6(TGFB2):c.953G>T (p.Cys318Phe) rs863223793
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352

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