List of variants in gene TBX1 reported as likely benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_001379200.1(TBX1):c.437+157T>C	rs72646954	0.01435
NM_001379200.1(TBX1):c.539+200C>T	rs41298818	0.01413
NM_001379200.1(TBX1):c.1037-136C>T	rs146055569	0.01324
NM_001379200.1(TBX1):c.164_165insG	rs41298842	0.01289
NM_001379200.1(TBX1):c.*118G>A	rs72646969	0.01218
NM_080647.1(TBX1):c.34+287G>A	rs41298792	0.01029
NM_001379200.1(TBX1):c.712-176A>G	rs41298828	0.00901
NM_001379200.1(TBX1):c.1036+189C>T	rs561843688	0.00497
NM_005992.1(TBX1):c.1010-3932T>C	rs59163998	0.00486
NM_001379200.1(TBX1):c.540-242C>A	rs41298824	0.00466
NM_001379200.1(TBX1):c.540-24C>T	rs138558623	0.00426
NM_005992.1(TBX1):c.*10+11C>T	rs72646975	0.00412
NM_005992.1(TBX1):c.1010-3449C>G	rs41298010	0.00399
NM_001379200.1(TBX1):c.519G>A (p.Pro173=)	rs111754814	0.00226
NM_001379200.1(TBX1):c.954C>T (p.Pro318=)	rs201607803	0.00114
NM_080647.1(TBX1):c.-3G>A	rs41298786	0.00109
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser)	rs565927787	0.00107
NM_001379200.1(TBX1):c.1037-15C>T	rs533097263	0.00087
NM_001379200.1(TBX1):c.90G>T (p.Leu30=)	rs770754649	0.00082
NM_001379200.1(TBX1):c.840C>T (p.Thr280=)	rs61730282	0.00063
NM_080647.1(TBX1):c.-39C>T	rs72646950	0.00063
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala)	rs952890575	0.00052
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln)	rs549715785	0.00049
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)	rs201993443	0.00026
NM_001379200.1(TBX1):c.705C>T (p.Asn235=)	rs149453540	0.00024
NM_001379200.1(TBX1):c.96C>T (p.Ala32=)	rs931429492	0.00011
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)	rs764197422	0.00009
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly)	rs557935727	0.00008
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val)	rs753613632	0.00007
NM_001379200.1(TBX1):c.437+11C>T	rs751433208	0.00004
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp)	rs756543718	0.00003
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr)	rs1028072654	0.00002
NM_001379200.1(TBX1):c.1347C>T (p.Gly449=)	rs1358757635	0.00001
NM_001379200.1(TBX1):c.1392C>T (p.His464=)	rs777103863	0.00001
NM_001379200.1(TBX1):c.936-11C>A	rs917326981	0.00001
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)	rs781731042
NM_001379200.1(TBX1):c.1242C>A (p.Pro414=)	rs200135498
NM_001379200.1(TBX1):c.1380T>C (p.His460=)	rs367711718
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del)	rs752498057
NM_001379200.1(TBX1):c.1419_1427del (p.Ala483_Ala485del)	rs777514486
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup)	rs1009463279
NM_001379200.1(TBX1):c.55G>C (p.Val19Leu)	rs1601282690
NM_001379200.1(TBX1):c.573G>A (p.Ala191=)	rs1057523372
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)	rs144848597
NM_001379200.1(TBX1):c.936-9_936-8delinsT	rs2145836809
NM_005992.1(TBX1):c.1010-3482C>G	rs41298008
NM_080647.1(TBX1):c.34+286G>T	rs41298790
NM_080647.1(TBX1):c.34+289dup	rs539827336

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