ClinVar Miner

List of variants reported as uncertain significance for DiGeorge sequence by Invitae

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ClinVar version:
Total variants: 71
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HGVS dbSNP
NC_000022.10:g.(?_18900668)_(19770565_?)dup rs0
NC_000022.10:g.(?_18910310)_(19770565_?)dup 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.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

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