ClinVar Miner

List of variants in gene TBX1 reported as benign for chromosome 22q deletion

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NC_000022.11:g.19755901C>T rs41260844 0.23484
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=) rs13054377 0.09863
NM_080647.1(TBX1):c.-882C>T rs41298629 0.03856
NM_001379200.1(TBX1):c.324G>A (p.Ala108=) rs72646953 0.02309
NM_001379200.1(TBX1):c.102G>T (p.Gly34=) rs72646952 0.01097
NM_001379200.1(TBX1):c.471C>T (p.Phe157=) rs139776757 0.00318
NM_001379200.1(TBX1):c.519G>A (p.Pro173=) rs111754814 0.00226
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001379200.1(TBX1):c.954C>T (p.Pro318=) rs201607803 0.00114
NM_001379200.1(TBX1):c.90G>T (p.Leu30=) rs770754649 0.00081
NM_001379200.1(TBX1):c.348G>A (p.Val116=) rs148928907 0.00064
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.540-16C>T rs200786105 0.00033
NM_001379200.1(TBX1):c.705C>T (p.Asn235=) rs149453540 0.00024
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=) rs200135498 0.00020
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly) rs557935727 0.00008
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val) rs753613632 0.00008
NM_001379200.1(TBX1):c.437+11C>T rs751433208 0.00004
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln) rs549715785 0.00003
NM_001379200.1(TBX1):c.540-17A>C rs750770662 0.00003
NM_001379200.1(TBX1):c.540-7G>A rs372179395 0.00003
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=) rs574947516 0.00001
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_1430del (p.Ala482_Ala485del) rs751264690
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379200.1(TBX1):c.935+16dup
NM_001379200.1(TBX1):c.936-9del rs763127510

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