ClinVar Miner

List of variants in gene TGFBR2 reported as likely benign for Marfan syndrome

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.*1833A>C rs1803446 0.02445
NM_003242.6(TGFBR2):c.*330C>A rs304840 0.01221
NM_003242.6(TGFBR2):c.*1880G>A rs11466534 0.01174
NM_003242.6(TGFBR2):c.*835C>A rs17026332 0.00994
NM_003242.6(TGFBR2):c.*1354C>T rs11466532 0.00943
NM_003242.5(TGFBR2):c.-302A>G rs138010137 0.00832
NM_003242.6(TGFBR2):c.*858C>T rs142745018 0.00443
NM_003242.6(TGFBR2):c.*1507A>G rs139938413 0.00439
NM_003242.6(TGFBR2):c.*599C>A rs79755385 0.00431
NM_003242.6(TGFBR2):c.*1815C>T rs146296952 0.00421
NM_003242.6(TGFBR2):c.*149A>T rs143024112 0.00415
NM_003242.6(TGFBR2):c.*2483T>G rs79535432 0.00328
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_003242.6(TGFBR2):c.*1886G>T rs11466535 0.00188
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.*2066G>A rs566913021 0.00116
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003242.6(TGFBR2):c.*1682A>G rs17026341 0.00058
NM_003242.6(TGFBR2):c.*848C>T rs17026336 0.00056
NM_003242.6(TGFBR2):c.*312A>T rs576840706 0.00039
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_003242.6(TGFBR2):c.*352A>G rs565524213 0.00004
NM_003242.6(TGFBR2):c.*988C>T rs138036906 0.00004
NM_003242.6(TGFBR2):c.*1075C>T rs544093849 0.00003
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411 0.00002
NM_003242.6(TGFBR2):c.*1285A>T rs574876197 0.00001
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_003242.6(TGFBR2):c.*859G>A rs548242538

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