ClinVar Miner

List of variants in gene combination TGFB2, TGFB2-OT1 reported as uncertain significance for Loeys-Dietz syndrome 4

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.*2053G>A rs530767727 0.00039
NM_003238.6(TGFB2):c.*2496A>G rs745522168 0.00029
NM_003238.6(TGFB2):c.*1338T>A rs574858097 0.00013
NM_003238.6(TGFB2):c.*1428T>C rs770610828 0.00009
NM_003238.6(TGFB2):c.*2352T>G rs537275941 0.00009
NM_003238.6(TGFB2):c.*1271A>G rs572446864 0.00007
NM_003238.6(TGFB2):c.*2007C>T rs1007087694 0.00004
NM_003238.6(TGFB2):c.*2089A>C rs886045988 0.00004
NM_003238.6(TGFB2):c.*2509G>T rs967223935 0.00002
NM_003238.6(TGFB2):c.*1615T>C rs886045987 0.00001
NM_003238.6(TGFB2):c.*1871C>T rs1009327040 0.00001
NM_003238.6(TGFB2):c.*1431A>C rs1660199096
NM_003238.6(TGFB2):c.*2421G>T rs1660233472
NM_003238.6(TGFB2):c.*2617T>C rs886045992

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