ClinVar Miner

List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as likely benign for Aicardi-Goutieres syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_033629.6(TREX1):c.-60C>T rs2279076
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_130384.3(ATRIP):c.*267T>C rs148393533
NM_130384.3(ATRIP):c.*272del rs3135939
NM_130384.3(ATRIP):c.*665C>T rs548710061

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.