ClinVar Miner

List of variants in gene TBX4 reported as likely benign for coxopodopatellar syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001321120.2(TBX4):c.*25G>A rs185650741
NM_001321120.2(TBX4):c.*313A>C rs141279587
NM_001321120.2(TBX4):c.*722C>A rs377432317
NM_001321120.2(TBX4):c.*766A>C rs191996071
NM_001321120.2(TBX4):c.*7C>T rs149961771
NM_001321120.2(TBX4):c.*99T>A rs79894176
NM_001321120.2(TBX4):c.1005C>T (p.His335=) rs577197197
NM_001321120.2(TBX4):c.104C>T (p.Ala35Val) rs148424252
NM_001321120.2(TBX4):c.1086G>C (p.Val362=) rs61739274
NM_001321120.2(TBX4):c.1158G>A (p.Glu386=) rs774920212
NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys) rs140662248
NM_001321120.2(TBX4):c.1515G>A (p.Lys505=) rs117324438
NM_001321120.2(TBX4):c.1524G>A (p.Ser508=) rs188952741
NM_001321120.2(TBX4):c.1623G>A (p.Glu541=) rs762062413
NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser) rs117410176
NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr) rs575407008
NM_001321120.2(TBX4):c.187-15C>T rs376619036
NM_001321120.2(TBX4):c.249G>A (p.Ala83=) rs35070263
NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser) rs78640841
NM_001321120.2(TBX4):c.703-8C>T rs188695560
NM_001321120.2(TBX4):c.921C>T (p.Asn307=) rs141188668
NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu) 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.