ClinVar Miner

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

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Total variants: 42
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HGVS dbSNP
NM_001135599.3(TGFB2):c.594+12TTG[12] rs10482769
NM_001135599.3(TGFB2):c.594+12TTG[8] rs10482769
NM_003238.5(TGFB2):c.*1198A>G rs556560548
NM_003238.5(TGFB2):c.*1229T>C rs781757001
NM_003238.5(TGFB2):c.*1233T>A rs555872587
NM_003238.5(TGFB2):c.*1233dup rs532376886
NM_003238.5(TGFB2):c.*2980G>C rs886045993
NM_003238.5(TGFB2):c.*3141A>G rs886045994
NM_003238.5(TGFB2):c.*323_*325CAA[9] rs11118106
NM_003238.5(TGFB2):c.*45A>G rs769232186
NM_003238.5(TGFB2):c.*589C>A rs886045981
NM_003238.5(TGFB2):c.*772C>T rs886045982
NM_003238.5(TGFB2):c.*782del rs886045983
NM_003238.5(TGFB2):c.*962A>G rs886045984
NM_003238.5(TGFB2):c.-1153G>T rs886045959
NM_003238.5(TGFB2):c.-1271A>G rs886045958
NM_003238.5(TGFB2):c.-1278_-1273AAGAGA[3] rs886045957
NM_003238.5(TGFB2):c.-542C>T rs886045973
NM_003238.5(TGFB2):c.-569T>C rs886045972
NM_003238.5(TGFB2):c.-620G>A rs886045971
NM_003238.5(TGFB2):c.-644A>G rs747761067
NM_003238.5(TGFB2):c.-644_-643AC[13] rs151329324
NM_003238.5(TGFB2):c.-644_-643AC[14] rs151329324
NM_003238.5(TGFB2):c.-644_-643AC[15] rs151329324
NM_003238.5(TGFB2):c.-645_-644insCCACGC rs886045967
NM_003238.5(TGFB2):c.-646G>A rs886045968
NM_003238.5(TGFB2):c.-652_-647GCACAC[3] rs765496001
NM_003238.5(TGFB2):c.-663C>T rs886045965
NM_003238.5(TGFB2):c.-679G>A rs886045964
NM_003238.5(TGFB2):c.-682C>G rs886045963
NM_003238.5(TGFB2):c.-683C>A rs886045962
NM_003238.5(TGFB2):c.-699A>C rs886045961
NM_003238.5(TGFB2):c.-746G>T rs576053414
NM_003238.5(TGFB2):c.-794T>C rs886045960
NM_003238.5(TGFB2):c.1029C>T (p.Ala343=) rs886045979
NM_003238.5(TGFB2):c.1181T>C (p.Ile394Thr) rs886045980
NM_003238.5(TGFB2):c.37C>A (p.His13Asn) rs763918203
NM_003238.5(TGFB2):c.52G>A (p.Ala18Thr) rs886045975
NM_003238.5(TGFB2):c.54G>T (p.Ala18=) rs781126315
NM_003238.5(TGFB2):c.589G>A (p.Glu197Lys) rs764028978
NM_003238.5(TGFB2):c.670T>G (p.Leu224Val) rs886045978
NM_003238.5(TGFB2):c.798T>A (p.Thr266=) rs376354795

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