ClinVar Miner

List of variants reported as pathogenic for Loeys-Dietz syndrome 4 by Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
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.895C>T (p.Arg299Trp) rs863223792
NM_003238.5(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
Single allele

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