ClinVar Miner

List of variants reported as pathogenic for Loeys-Dietz syndrome 4

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP
NM_001135599.2:c.595_1245del
NM_003238.5(TGFB2):c.1013C>A (p.Pro338His) rs387907278
NM_003238.5(TGFB2):c.1022_1026del (p.Tyr341fs) rs398122884
NM_003238.5(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.5(TGFB2):c.297C>A (p.Tyr99Ter) rs760759052
NM_003238.5(TGFB2):c.687C>A (p.Cys229Ter) rs398122885
NM_003238.5(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003238.5(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.5(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.5(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003239.4(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.4(TGFB3):c.883_884del (p.Gly295fs) rs1060502826
NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003239.4(TGFB3):c.989G>A (p.Trp330Ter) rs1555360222
Single allele

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