ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.2(RNASEH2A):c.874G>A (p.Gly292Ser)
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_024570.3(RNASEH2B):c.314A>C (p.Asp105Ala)
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715

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.