ClinVar Miner

List of variants in gene TGFB2 reported as pathogenic for Loeys-Dietz syndrome

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.583G>T (p.Glu195Ter) rs863223790 0.00001
NC_000001.10:g.(?_218520044)_(218607810_?)del
NC_000001.10:g.(?_218520044)_(218614704_?)del
NC_000001.11:g.(?_218344334)_(218445619_?)del
NM_001135599.4:c.595_1245del
NM_003238.6(TGFB2):c.1013C>A (p.Pro338His) rs387907278
NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs) rs398122884
NM_003238.6(TGFB2):c.1069_1072del (p.Asp357fs)
NM_003238.6(TGFB2):c.127C>T (p.Gln43Ter)
NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter) rs2102527516
NM_003238.6(TGFB2):c.171T>A (p.Tyr57Ter) rs897070997
NM_003238.6(TGFB2):c.186del (p.Val63fs)
NM_003238.6(TGFB2):c.194dup (p.Glu66fs) rs2102527595
NM_003238.6(TGFB2):c.196del (p.Glu66fs) rs1553292099
NM_003238.6(TGFB2):c.238_239delinsAAG (p.Glu80fs) rs1571821003
NM_003238.6(TGFB2):c.252dup (p.Arg85fs) rs1553292112
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter) rs1656706610
NM_003238.6(TGFB2):c.291_293dup (p.Tyr98Ter)
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter) rs760759052
NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter) rs760759052
NM_003238.6(TGFB2):c.301A>T (p.Lys101Ter)
NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs) rs2102527910
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.404C>G (p.Ser135Ter) rs2102594816
NM_003238.6(TGFB2):c.447_448del (p.Phe149fs) rs1658870968
NM_003238.6(TGFB2):c.456dup (p.Arg153fs) rs2102594880
NM_003238.6(TGFB2):c.457del (p.Arg153fs)
NM_003238.6(TGFB2):c.490C>T (p.Gln164Ter) rs1658873227
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) rs730880221
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs) rs1064796256
NM_003238.6(TGFB2):c.589G>T (p.Glu197Ter)
NM_003238.6(TGFB2):c.655G>T (p.Gly219Ter)
NM_003238.6(TGFB2):c.678T>A (p.Cys226Ter)
NM_003238.6(TGFB2):c.687C>A (p.Cys229Ter) rs398122885
NM_003238.6(TGFB2):c.765del (p.Thr256fs)
NM_003238.6(TGFB2):c.821del (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.868dup (p.Arg290fs) rs2102628609
NM_003238.6(TGFB2):c.892_901del (p.Arg298fs) rs1553303203
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.89del (p.Asp30fs)
NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser) rs869312903
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.912_930del (p.Asp305fs) rs2102628675
NM_003238.6(TGFB2):c.918_923dup (p.Tyr308Ter) rs1659965467
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003238.6(TGFB2):c.959del (p.Arg320fs)
NM_003238.6(TGFB2):c.986dup (p.Asp329fs) rs2102630058
NM_003238.6(TGFB2):c.990dup (p.Gly331fs) rs1571904218
NM_003238.6(TGFB2):c.9del (p.Cys4fs)

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