ClinVar Miner

List of variants in gene TGFBR2 reported as likely benign for Loeys-Dietz syndrome

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Total variants: 37
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HGVS dbSNP
NM_003242.5(TGFBR2):c.-302A>G rs138010137
NM_003242.6(TGFBR2):c.*105G>A rs149112005
NM_003242.6(TGFBR2):c.*1075C>T rs544093849
NM_003242.6(TGFBR2):c.*1285A>T rs574876197
NM_003242.6(TGFBR2):c.*1354C>T rs11466532
NM_003242.6(TGFBR2):c.*149A>T rs143024112
NM_003242.6(TGFBR2):c.*1507A>G rs139938413
NM_003242.6(TGFBR2):c.*1682A>G rs17026341
NM_003242.6(TGFBR2):c.*1815C>T rs146296952
NM_003242.6(TGFBR2):c.*1833A>C rs1803446
NM_003242.6(TGFBR2):c.*1880G>A rs11466534
NM_003242.6(TGFBR2):c.*1886G>T rs11466535
NM_003242.6(TGFBR2):c.*2066G>A rs566913021
NM_003242.6(TGFBR2):c.*2483T>G rs79535432
NM_003242.6(TGFBR2):c.*312A>T rs576840706
NM_003242.6(TGFBR2):c.*330C>A rs304840
NM_003242.6(TGFBR2):c.*352A>G rs565524213
NM_003242.6(TGFBR2):c.*443A>G rs188599299
NM_003242.6(TGFBR2):c.*599C>A rs79755385
NM_003242.6(TGFBR2):c.*835C>A rs17026332
NM_003242.6(TGFBR2):c.*848C>T rs17026336
NM_003242.6(TGFBR2):c.*858C>T rs142745018
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.*988C>T rs138036906
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666

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