ClinVar Miner

List of variants in gene TGFB2 reported as likely pathogenic for Marfan and Marfan-related disorder

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys) rs1436552875 0.00001
NC_000001.10:g.(?_218578501)_(218610848_?)del
NC_000001.11:g.(?_218405159)_(218405342_?)dup
NC_000001.11:g.(?_218405159)_(218444629_?)del
NC_000001.11:g.(?_218435960)_(218437506_?)del
NC_000001.11:g.(?_218441194)_(218444629_?)del
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr) rs1558264109
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter) rs1656706610
NM_003238.6(TGFB2):c.346+1G>A rs1553292145
NM_003238.6(TGFB2):c.346+1G>T rs1553292145
NM_003238.6(TGFB2):c.370dup (p.Arg124fs) rs869025533
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) rs730880221
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs) rs1659897581
NM_003238.6(TGFB2):c.754+1G>A
NM_003238.6(TGFB2):c.755-5_755-2delinsG rs1553303161
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.921_932+4del
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.933-2A>C
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352

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