ClinVar Miner

List of variants in gene TBX1 reported as uncertain significance for DiGeorge sequence

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP
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.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.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.131_133CGC[3] (p.Pro47_Pro48del) rs886038791
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.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.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.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.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.1341C>A (p.His447Gln) rs1601294758
NM_080647.1(TBX1):c.1375G>C (p.Val459Leu) rs0
NM_080647.1(TBX1):c.1381_1419del (p.Pro461_Ala473del) rs0
NM_080647.1(TBX1):c.1392_1403del (p.Ala473_Ala476del) rs0
NM_080647.1(TBX1):c.1399_1428del (p.Ala467_Ala476del) rs746335599
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.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.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.609C>T (p.Gly203=) rs779173153
NM_080647.1(TBX1):c.684C>T (p.His228=) rs200021644
NM_080647.1(TBX1):c.928G>T (p.Gly310Cys) rs41298838

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.