ClinVar Miner

List of variants in gene TGFB2 studied for Loeys-Dietz syndrome 4

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Total variants: 26
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HGVS dbSNP
NM_001135599.2:c.595_1245del
NM_001135599.3(TGFB2):c.1017-6del rs11285412
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.1137G>A (p.Pro379=) rs142741166
NM_001135599.3(TGFB2):c.1316G>C (p.Cys439Ser) rs1553303761
NM_001135599.3(TGFB2):c.194C>T (p.Pro65Leu) rs750324465
NM_001135599.3(TGFB2):c.199G>A (p.Val67Met) rs201761868
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
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.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.470T>C (p.Ile157Thr) rs752823052
NM_001135599.3(TGFB2):c.542G>A (p.Arg181His) rs1057518684
NM_001135599.3(TGFB2):c.594+12TTG[11] rs10482769
NM_001135599.3(TGFB2):c.594+12TTG[12] rs10482769
NM_001135599.3(TGFB2):c.594+12TTG[9] rs10482769
NM_001135599.3(TGFB2):c.631C>T (p.Arg211Cys) rs1436552875
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135599.3(TGFB2):c.727+7A>C rs7531245
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
NM_003238.6(TGFB2):c.510+13_510+14insTGT

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