ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome by Invitae

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NC_000020.10:g.(?_35579819)_(35580066_?)del
NC_000020.10:g.(?_35579829)_(35580056_?)del
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448
NM_001111.5(ADAR):c.2564dup (p.Thr856fs)
NM_001111.5(ADAR):c.3346del (p.Arg1116fs) rs1557863734
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
NM_001142279.2(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_001142279.2(RNASEH2B):c.136+1del rs75186889
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1408del (p.Arg470fs) rs1568762986
NM_015474.3(SAMHD1):c.1476del (p.Lys492fs)
NM_015474.3(SAMHD1):c.400C>T (p.Arg134Ter)
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
NM_015474.3(SAMHD1):c.494_495dup (p.Glu166fs)
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.658C>T (p.Arg220Ter)
NM_015474.3(SAMHD1):c.700G>T (p.Glu234Ter)
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533
NM_024570.3(RNASEH2B):c.510+1G>A
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383
NM_024570.3(RNASEH2B):c.719C>G (p.Ser240Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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.