ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.*782del rs886045983 0.00001
NM_003238.6(TGFB2):c.*1233dup rs532376886
NM_003238.6(TGFB2):c.*323CAA[9] rs11118106
NM_003238.6(TGFB2):c.-1278AAGAGA[3] rs886045957
NM_003238.6(TGFB2):c.-644AC[13] rs151329324
NM_003238.6(TGFB2):c.-644AC[14] rs151329324
NM_003238.6(TGFB2):c.-644AC[15] rs151329324
NM_003238.6(TGFB2):c.-645_-644insCCACGC rs886045967
NM_003238.6(TGFB2):c.-652GCACAC[3] rs765496001
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[8] rs10482769

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