ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP
NM_001135599.3(TGFB2):c.*1233del rs532376886
NM_001135599.3(TGFB2):c.*1233dup rs532376886
NM_001135599.3(TGFB2):c.*323_*325CAA[9] rs11118106
NM_001135599.3(TGFB2):c.*782del rs886045983
NM_001135599.3(TGFB2):c.*799del rs57430619
NM_001135599.3(TGFB2):c.-113_-110dup rs10482719
NM_001135599.3(TGFB2):c.-1278_-1273AAGAGA[3] rs886045957
NM_001135599.3(TGFB2):c.-45del rs200186989
NM_001135599.3(TGFB2):c.-644_-643AC[11] rs151329324
NM_001135599.3(TGFB2):c.-644_-643AC[13] rs151329324
NM_001135599.3(TGFB2):c.-644_-643AC[14] rs151329324
NM_001135599.3(TGFB2):c.-644_-643AC[15] rs151329324
NM_001135599.3(TGFB2):c.-645_-644insCCACGC rs886045967
NM_001135599.3(TGFB2):c.-652_-647GCACAC[3] rs765496001
NM_001135599.3(TGFB2):c.454dup (p.Arg152fs) rs869025533
NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) rs869025531
NM_001135599.3(TGFB2):c.594+12TTG[12] rs10482769
NM_001135599.3(TGFB2):c.628C>T (p.Gln210Ter) rs730880221
NM_003238.6(TGFB2):c.510+12TTG[8] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769

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