ClinVar Miner

List of variants in gene combination LOC126806878, TBL1XR1 reported as likely benign for Pierpont syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.926-16C>G rs111696369 0.00011
NM_024665.7(TBL1XR1):c.926-18A>G rs556726946 0.00004
NM_024665.7(TBL1XR1):c.933A>G (p.Ala311=) rs778688857 0.00002
NM_024665.7(TBL1XR1):c.1089C>G (p.Leu363=) rs749108767 0.00001
NM_024665.7(TBL1XR1):c.945T>C (p.Asp315=) rs757159620 0.00001
NM_024665.7(TBL1XR1):c.1026T>A (p.Ile342=)
NM_024665.7(TBL1XR1):c.1090T>C (p.Leu364=) rs2108436409
NM_024665.7(TBL1XR1):c.1095C>G (p.Ala365=) rs2108436387
NM_024665.7(TBL1XR1):c.1104T>G (p.Ser368=)
NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=)
NM_024665.7(TBL1XR1):c.1122+13G>C rs973017561
NM_024665.7(TBL1XR1):c.1122+15A>T rs781151039
NM_024665.7(TBL1XR1):c.926-12G>T rs1715114156
NM_024665.7(TBL1XR1):c.926-20T>C rs2108437610
NM_024665.7(TBL1XR1):c.926-6T>C rs1553810291
NM_024665.7(TBL1XR1):c.999C>T (p.Val333=)

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.