ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain significance for Marfan syndrome

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Total variants: 43
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HGVS dbSNP
NM_003242.5(TGFBR2):c.*1201C>T rs886058318
NM_003242.5(TGFBR2):c.*1211A>T rs886058319
NM_003242.5(TGFBR2):c.*1326G>A rs886058320
NM_003242.5(TGFBR2):c.*1572A>G rs878857301
NM_003242.5(TGFBR2):c.*1842G>T rs886058321
NM_003242.5(TGFBR2):c.*1859G>T rs886058322
NM_003242.5(TGFBR2):c.*1860C>A rs886058323
NM_003242.5(TGFBR2):c.*1887G>T rs886058324
NM_003242.5(TGFBR2):c.*1998G>A rs886058325
NM_003242.5(TGFBR2):c.*226C>A rs886058307
NM_003242.5(TGFBR2):c.*2332A>C rs886058326
NM_003242.5(TGFBR2):c.*2335T>A rs886058327
NM_003242.5(TGFBR2):c.*2340T>C rs886058328
NM_003242.5(TGFBR2):c.*2425C>A rs886058329
NM_003242.5(TGFBR2):c.*2437T>A rs886058330
NM_003242.5(TGFBR2):c.*326_*329dupATAT rs4016180
NM_003242.5(TGFBR2):c.*328A>C rs886058309
NM_003242.5(TGFBR2):c.*330_*331delCT rs561991238
NM_003242.5(TGFBR2):c.*33A>G rs886058306
NM_003242.5(TGFBR2):c.*598G>T rs886058311
NM_003242.5(TGFBR2):c.*704A>G rs886058312
NM_003242.5(TGFBR2):c.*713G>T rs886058313
NM_003242.5(TGFBR2):c.*742C>T rs17026328
NM_003242.5(TGFBR2):c.*793G>T rs886058314
NM_003242.5(TGFBR2):c.*799A>G rs886058315
NM_003242.5(TGFBR2):c.*86A>G rs540602629
NM_003242.5(TGFBR2):c.*989G>A rs886058316
NM_003242.5(TGFBR2):c.*997T>A rs886058317
NM_003242.5(TGFBR2):c.-117G>A rs886058302
NM_003242.5(TGFBR2):c.-18C>A rs753369354
NM_003242.5(TGFBR2):c.-193G>A rs886058301
NM_003242.5(TGFBR2):c.-228C>A rs886058300
NM_003242.5(TGFBR2):c.-249T>G rs886058299
NM_003242.5(TGFBR2):c.-307C>T rs749340193
NM_003242.5(TGFBR2):c.-344C>A rs886058298
NM_003242.5(TGFBR2):c.-371A>C rs886058297
NM_003242.5(TGFBR2):c.1470C>T (p.Asn490=) rs141113059
NM_003242.5(TGFBR2):c.1525-10C>G rs747069454
NM_003242.5(TGFBR2):c.472C>T (p.Pro158Ser) rs886058303
NM_003242.5(TGFBR2):c.621G>A (p.Arg207=) rs886058304
NM_003242.5(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.5(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.5(TGFBR2):c.736C>T (p.Leu246=) rs886058305

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