ClinVar Miner

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

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_003238.5(TGFB2):c.*1273T>C rs143593418
NM_003238.5(TGFB2):c.*1310C>T rs1418556
NM_003238.5(TGFB2):c.*1315T>G rs577782618
NM_003238.5(TGFB2):c.*1338T>A rs574858097
NM_003238.5(TGFB2):c.*1443T>A rs60086269
NM_003238.5(TGFB2):c.*1502T>C rs17500758
NM_003238.5(TGFB2):c.*1585C>G rs17047863
NM_003238.5(TGFB2):c.*1615T>C rs886045987
NM_003238.5(TGFB2):c.*1624T>A rs3737977
NM_003238.5(TGFB2):c.*1684G>C rs192396801
NM_003238.5(TGFB2):c.*2008G>A rs12408711
NM_003238.5(TGFB2):c.*2053G>A rs530767727
NM_003238.5(TGFB2):c.*2089A>C rs886045988
NM_003238.5(TGFB2):c.*2108G>A rs184256338
NM_003238.5(TGFB2):c.*2188T>C rs17047869
NM_003238.5(TGFB2):c.*2269T>C rs193244018
NM_003238.5(TGFB2):c.*2359_*2361del rs3054943
NM_003238.5(TGFB2):c.*2360_*2361del rs3054943
NM_003238.5(TGFB2):c.*2361del rs3054943
NM_003238.5(TGFB2):c.*2431C>G rs1046017
NM_003238.5(TGFB2):c.*2564A>G rs77808075
NM_003238.5(TGFB2):c.*2617T>C rs886045992

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