ClinVar Miner

List of variants in gene TBX1 reported as likely benign for DiGeorge sequence

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Total variants: 20
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HGVS dbSNP
NM_005992.1(TBX1):c.1009+503GCCGGCGGC[3] rs1288296547
NM_005992.1(TBX1):c.131_133CGC[6] (p.Pro48dup) rs886038791
NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp) rs781731042
NM_080647.1(TBX1):c.1132G>A (p.Gly378Ser) rs565927787
NM_080647.1(TBX1):c.1134C>T (p.Gly378=) rs941116789
NM_080647.1(TBX1):c.1151C>A (p.Pro384Gln) rs918788695
NM_080647.1(TBX1):c.1194C>T (p.Pro398=) rs1305509653
NM_080647.1(TBX1):c.1296G>A (p.Arg432=) rs1228904807
NM_080647.1(TBX1):c.1325G>C (p.Arg442Pro) rs755937050
NM_080647.1(TBX1):c.1341_1352dup (p.Ala450_His453dup) rs774578030
NM_080647.1(TBX1):c.1375G>T (p.Val459Leu) rs0
NM_080647.1(TBX1):c.1383_1421del (p.Ala464_Ala476del) rs0
NM_080647.1(TBX1):c.1392_1400del (p.Ala474_Ala476del) rs777514486
NM_080647.1(TBX1):c.1410C>T (p.Ala470=) rs1415301935
NM_080647.1(TBX1):c.15C>T (p.Thr5=) rs764497467
NM_080647.1(TBX1):c.462C>T (p.Ala154=) rs41298816
NM_080647.1(TBX1):c.513-8C>T rs72646960
NM_080647.1(TBX1):c.567G>A (p.Thr189=) rs138724943
NM_080647.1(TBX1):c.576C>T (p.Arg192=) rs761495882
NM_080647.1(TBX1):c.909-8G>T rs753380966

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