ClinVar Miner

List of variants in gene TBX1 studied for DiGeorge sequence

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NC_000022.11:g.(?_19755901)_(19759687_?)del rs0
NC_000022.11:g.(?_19755950)_(19759697_?)del rs0
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys) rs0
NM_001379200.1(TBX1):c.1037-1G>A rs0
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser) rs0
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=) rs0
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu) rs0
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser) rs0
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg) rs0
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys) rs0
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln) rs0
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del) rs0
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup) rs0
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His) rs0
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg) rs0
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu) rs0
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup) rs0
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) rs0
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser) rs0
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr) rs0
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr) rs0
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu) rs0
NM_001379200.1(TBX1):c.438-7C>A rs0
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr) rs0
NM_001379200.1(TBX1):c.618G>A (p.Pro206=) rs0
NM_001379200.1(TBX1):c.646A>G (p.Met216Val) rs0
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn) rs0
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) rs0
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) rs0
NM_001379200.1(TBX1):c.922G>C (p.Asp308His) rs0
NM_001379200.1(TBX1):c.95C>T (p.Ala32Val) rs0
NM_005992.1(TBX1):c.1009+500_1009+502delinsAGGGCCGGCGGC rs1555896709
NM_005992.1(TBX1):c.1009+503GCCGGCGGC[3] rs1288296547
NM_005992.1(TBX1):c.131_133CGC[3] (p.Pro47_Pro48del) rs886038791
NM_005992.1(TBX1):c.131_133CGC[6] (p.Pro48dup) rs886038791
NM_005992.1(TBX1):c.188_190CGC[6] (p.Pro67dup) rs1009463279
NM_080647.1(TBX1):c.-39C>T rs72646950
NM_080647.1(TBX1):c.100G>T (p.Gly34Cys) rs0
NM_080647.1(TBX1):c.1010-7_1010-6del rs1037168604
NM_080647.1(TBX1):c.1019A>T (p.Glu340Val) rs751917634
NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp) rs781731042
NM_080647.1(TBX1):c.1055C>T (p.Pro352Leu) rs1001921296
NM_080647.1(TBX1):c.1058C>T (p.Ala353Val) rs0
NM_080647.1(TBX1):c.1076C>A (p.Ala359Glu) rs1157536437
NM_080647.1(TBX1):c.1122_1123insAGGGCCGGC (p.Gly375_Ala376insArgAlaGly) rs0
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.1168G>A (p.Gly390Arg) rs0
NM_080647.1(TBX1):c.1169G>A (p.Gly390Glu) rs1274082696
NM_080647.1(TBX1):c.1187C>T (p.Pro396Leu) rs746812421
NM_080647.1(TBX1):c.1194C>T (p.Pro398=) rs1305509653
NM_080647.1(TBX1):c.1211C>G (p.Ala404Gly) rs557935727
NM_080647.1(TBX1):c.1215C>T (p.Pro405=) rs200135498
NM_080647.1(TBX1):c.1225G>C (p.Glu409Gln) rs0
NM_080647.1(TBX1):c.1234C>A (p.His412Asn) rs985907694
NM_080647.1(TBX1):c.1253A>T (p.Tyr418Phe) rs1601294456
NM_080647.1(TBX1):c.1275_1277del (p.Tyr426del) rs0
NM_080647.1(TBX1):c.1287C>T (p.Ala429=) rs574947516
NM_080647.1(TBX1):c.1296G>A (p.Arg432=) rs1228904807
NM_080647.1(TBX1):c.1309C>T (p.Pro437Ser) rs201993443
NM_080647.1(TBX1):c.130C>T (p.Pro44Ser) rs0
NM_080647.1(TBX1):c.131C>T (p.Pro44Leu) rs0
NM_080647.1(TBX1):c.1325G>C (p.Arg442Pro) rs755937050
NM_080647.1(TBX1):c.1341C>A (p.His447Gln) rs1601294758
NM_080647.1(TBX1):c.1341_1352dup (p.Ala450_His453dup) rs774578030
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.1375G>C (p.Val459Leu) rs0
NM_080647.1(TBX1):c.1375G>T (p.Val459Leu) rs0
NM_080647.1(TBX1):c.1381_1419del (p.Pro461_Ala473del) 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.1392_1403del (p.Ala473_Ala476del) rs0
NM_080647.1(TBX1):c.1397C>T (p.Ala466Val) rs753613632
NM_080647.1(TBX1):c.1399_1428del (p.Ala467_Ala476del) rs746335599
NM_080647.1(TBX1):c.1410C>T (p.Ala470=) rs1415301935
NM_080647.1(TBX1):c.1434G>A (p.Met478Ile) rs371506174
NM_080647.1(TBX1):c.1447G>A (p.Gly483Arg) rs541198585
NM_080647.1(TBX1):c.1447G>T (p.Gly483Ter) rs0
NM_080647.1(TBX1):c.1457C>A (p.Pro486Gln) rs762076391
NM_080647.1(TBX1):c.15C>T (p.Thr5=) rs764497467
NM_080647.1(TBX1):c.167_175del (p.Ala56_Pro58del) rs1601283061
NM_080647.1(TBX1):c.197_202dup rs1009463279
NM_080647.1(TBX1):c.212C>G (p.Pro71Arg) rs0
NM_080647.1(TBX1):c.243C>A (p.Ser81Arg) rs1478778776
NM_080647.1(TBX1):c.257C>G (p.Pro86Arg) rs0
NM_080647.1(TBX1):c.257C>T (p.Pro86Leu) rs0
NM_080647.1(TBX1):c.292A>T (p.Lys98Ter) rs1555895466
NM_080647.1(TBX1):c.297G>A (p.Ala99=) rs72646953
NM_080647.1(TBX1):c.309_311del rs369050575
NM_080647.1(TBX1):c.321G>A (p.Val107=) rs148928907
NM_080647.1(TBX1):c.353C>T (p.Ala118Val) rs1601283489
NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) rs1445910672
NM_080647.1(TBX1):c.411-5C>G rs0
NM_080647.1(TBX1):c.420T>G (p.Phe140Leu) rs41298814
NM_080647.1(TBX1):c.421C>T (p.Pro141Ser) rs0
NM_080647.1(TBX1):c.444C>T (p.Phe148=) rs139776757
NM_080647.1(TBX1):c.462C>T (p.Ala154=) rs41298816
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
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.609C>T (p.Gly203=) rs779173153
NM_080647.1(TBX1):c.63G>T (p.Leu21=) rs770754649
NM_080647.1(TBX1):c.678C>T (p.Asn226=) rs149453540
NM_080647.1(TBX1):c.684C>T (p.His228=) rs200021644
NM_080647.1(TBX1):c.813C>T (p.Thr271=) rs61730282
NM_080647.1(TBX1):c.909-8G>T rs753380966
NM_080647.1(TBX1):c.927C>T (p.Pro309=) rs201607803
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838
NM_080647.1(TBX1):c.928G>T (p.Gly310Cys) rs41298838

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