ClinVar Miner

List of variants in gene TBX1 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_080647.1(TBX1):c.1019A>T (p.Glu340Val)
NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp) rs781731042
NM_080647.1(TBX1):c.1055C>T (p.Pro352Leu)
NM_080647.1(TBX1):c.1134C>T (p.Gly378=) rs941116789
NM_080647.1(TBX1):c.1169G>A (p.Gly390Glu)
NM_080647.1(TBX1):c.1218C>T (p.Gly406=) rs780344405
NM_080647.1(TBX1):c.1234C>A (p.His412Asn)
NM_080647.1(TBX1):c.140_145delCGCCGC (p.Pro47_Pro48del) rs886038791
NM_080647.1(TBX1):c.243C>A (p.Ser81Arg)
NM_080647.1(TBX1):c.324C>T (p.Ala108=)
NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) rs1445910672
NM_080647.1(TBX1):c.928G>T (p.Gly310Cys) rs41298838

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