ClinVar Miner

List of variants in gene TBX4 reported as not provided for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter) rs2143870166
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) rs754897911
NM_001321120.2(TBX4):c.113dup (p.Leu39fs) rs2143792404
NM_001321120.2(TBX4):c.1167dup (p.Arg390fs) rs1569046598
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) rs28936696
NM_001321120.2(TBX4):c.287T>A (p.Met96Lys) rs2143820885
NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys) rs2143821059
NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp) rs2143860927
NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter) rs2143862349
NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter) rs202061937

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.