ClinVar Miner

List of variants in gene TGFBR2 studied for Marfan syndrome

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_003242.6(TGFBR2):c.*747C>G rs11466531 0.10463
NM_003242.6(TGFBR2):c.*1809A>G rs6550008 0.07275
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
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.*742C>T rs17026328 0.00125
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.*86A>G rs540602629 0.00021
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003242.5(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_003242.5(TGFBR2):c.-307C>T rs749340193 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003242.6(TGFBR2):c.*1572A>G rs878857301 0.00004
NM_003242.6(TGFBR2):c.*2340T>C rs886058328 0.00004
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.696C>T (p.Ala232=) rs768508812 0.00004
NM_003242.6(TGFBR2):c.*1075C>T rs544093849 0.00003
NM_003242.6(TGFBR2):c.*328A>C rs886058309 0.00003
NM_003242.6(TGFBR2):c.*989G>A rs886058316 0.00003
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 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.*1998G>A rs886058325 0.00001
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_003242.6(TGFBR2):c.1525-10C>G rs747069454 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_003242.5(TGFBR2):c.-344C>A rs886058298
NM_003242.6(TGFBR2):c.*1211A>T rs886058319
NM_003242.6(TGFBR2):c.*1326G>A rs886058320
NM_003242.6(TGFBR2):c.*1842G>T rs886058321
NM_003242.6(TGFBR2):c.*1859G>T rs886058322
NM_003242.6(TGFBR2):c.*1860C>A rs886058323
NM_003242.6(TGFBR2):c.*1887G>T rs886058324
NM_003242.6(TGFBR2):c.*2248dup rs34914516
NM_003242.6(TGFBR2):c.*226C>A rs886058307
NM_003242.6(TGFBR2):c.*2332A>C rs886058326
NM_003242.6(TGFBR2):c.*2437T>A rs886058330
NM_003242.6(TGFBR2):c.*312AT[11] rs4016180
NM_003242.6(TGFBR2):c.*330_*331del rs561991238
NM_003242.6(TGFBR2):c.*33A>G rs886058306
NM_003242.6(TGFBR2):c.*598G>T rs886058311
NM_003242.6(TGFBR2):c.*704A>G rs886058312
NM_003242.6(TGFBR2):c.*713G>T rs886058313
NM_003242.6(TGFBR2):c.*793G>T rs886058314
NM_003242.6(TGFBR2):c.*799A>G rs886058315
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.*997T>A rs886058317
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-228C>A rs886058300
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser) rs886058303
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=) rs886058305

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