ClinVar Miner

List of variants in gene TBX1 reported as benign for Pierre Robin syndrome associated with a chromosomal anomaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_080647.1(TBX1):c.-882C>T rs41298629
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.1397C>T (p.Ala466Val) rs753613632
NM_080647.1(TBX1):c.297G>A (p.Ala99=) rs72646953
NM_080647.1(TBX1):c.303_305GAA[2] (p.Lys103del) rs369050575
NM_080647.1(TBX1):c.444C>T (p.Phe148=) rs139776757
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
NM_080647.1(TBX1):c.813C>T (p.Thr271=) rs61730282
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838

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.