ClinVar Miner

List of variants in gene TGFB2 reported as pathogenic for Loeys-Dietz syndrome 4

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Total variants: 10
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HGVS dbSNP
NM_001135599.2:c.595_1245del
NM_001135599.3(TGFB2):c.1042C>T (p.Arg348Cys) rs1553303352
NM_001135599.3(TGFB2):c.1097C>A (p.Pro366His) rs387907278
NM_001135599.3(TGFB2):c.1106_1110del (p.Tyr369fs) rs398122884
NM_001135599.3(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_001135599.3(TGFB2):c.297C>A (p.Tyr99Ter) rs760759052
NM_001135599.3(TGFB2):c.771C>A (p.Cys257Ter) rs398122885
NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp) rs863223792
NM_001135599.3(TGFB2):c.980G>A (p.Arg327Gln) rs1057521150
NM_001135599.3(TGFB2):c.988C>T (p.Arg330Cys) rs869312903

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