ClinVar Miner

List of variants in gene TGFB2 reported as benign for Loeys-Dietz syndrome

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.-784A>C rs1557153 0.99928
NM_003238.6(TGFB2):c.-677T>C rs112369231 0.39003
NM_003238.6(TGFB2):c.*747A>C rs991967 0.37303
NM_003238.6(TGFB2):c.*2839G>A rs6704255 0.35183
NM_003238.6(TGFB2):c.*3196C>T rs6683598 0.34937
NM_003238.6(TGFB2):c.*201A>T rs900 0.32524
NM_003238.6(TGFB2):c.-714A>C rs73110310 0.10708
NM_003238.6(TGFB2):c.-1302A>G rs10482718 0.03064
NM_003238.6(TGFB2):c.*39G>A rs11466412 0.02203
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_003238.6(TGFB2):c.-1230G>A rs11466363 0.00928
NM_003238.6(TGFB2):c.*969T>C rs187495965 0.00490
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_003238.6(TGFB2):c.-746G>T rs576053414 0.00259
NM_003238.6(TGFB2):c.*720T>C rs544540486 0.00087
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_003238.6(TGFB2):c.*2950G>A rs147957308 0.00071
NM_003238.6(TGFB2):c.-5A>T rs200702935 0.00060
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_003238.6(TGFB2):c.*135G>A rs61762489 0.00049
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_003238.6(TGFB2):c.588C>T (p.Gly196=) rs192335285 0.00038
NM_003238.6(TGFB2):c.37C>A (p.His13Asn) rs763918203 0.00001
NM_003238.6(TGFB2):c.501G>A (p.Glu167=) rs550789732 0.00001
NM_003238.6(TGFB2):c.*1198A>G rs556560548
NM_003238.6(TGFB2):c.*799del rs57430619
NM_003238.6(TGFB2):c.-113_-110dup rs10482719
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769
NM_003238.6(TGFB2):c.511-10del rs376560786
NM_003238.6(TGFB2):c.755-5dup
NM_003238.6(TGFB2):c.933-6del rs11285412
NM_003238.6(TGFB2):c.933-7_933-6del rs11285412

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