ClinVar Miner

List of variants in gene TGFB2, TGFB2-OT1 studied for Loeys-Dietz syndrome 4

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.*2431C>G rs1046017 0.37219
NM_003238.6(TGFB2):c.*1310C>T rs1418556 0.37003
NM_003238.6(TGFB2):c.*1624T>A rs3737977 0.10338
NM_003238.6(TGFB2):c.*1502T>C rs17500758 0.03234
NM_003238.6(TGFB2):c.*2188T>C rs17047869 0.02183
NM_003238.6(TGFB2):c.*1443T>A rs60086269 0.01705
NM_003238.6(TGFB2):c.*2564A>G rs77808075 0.01063
NM_003238.6(TGFB2):c.*1585C>G rs17047863 0.00958
NM_003238.6(TGFB2):c.*1273T>C rs143593418 0.00586
NM_003238.6(TGFB2):c.*1684G>C rs192396801 0.00452
NM_003238.6(TGFB2):c.*2269T>C rs193244018 0.00262
NM_003238.6(TGFB2):c.*1315T>G rs577782618 0.00214
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.*2108G>A rs184256338 0.00018
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.*1389C>T rs528922293 0.00004
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.*2008G>A rs12408711
NM_003238.6(TGFB2):c.*2421G>T rs1660233472
NM_003238.6(TGFB2):c.*2617T>C rs886045992

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