ClinVar Miner

List of variants in gene ADAR 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: 23
Download table as spreadsheet
HGVS dbSNP
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe) rs34154757
NM_001111.5(ADAR):c.108C>T (p.Pro36=) rs1571113155
NM_001111.5(ADAR):c.1107G>A (p.Thr369=) rs181731036
NM_001111.5(ADAR):c.1125C>T (p.Thr375=) rs145166589
NM_001111.5(ADAR):c.1806C>T (p.Pro602=) rs757296904
NM_001111.5(ADAR):c.1934+8C>T rs376025865
NM_001111.5(ADAR):c.2052G>A (p.Ala684=) rs148041309
NM_001111.5(ADAR):c.2202C>T (p.Tyr734=) rs375867672
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721
NM_001111.5(ADAR):c.2649C>T (p.Val883=) rs200989942
NM_001111.5(ADAR):c.2762+10G>A rs879809934
NM_001111.5(ADAR):c.2762+7G>A rs201315688
NM_001111.5(ADAR):c.2895G>A (p.Pro965=) rs149207057
NM_001111.5(ADAR):c.3132C>T (p.Asn1044=) rs771119857
NM_001111.5(ADAR):c.3171G>A (p.Leu1057=) rs149496690
NM_001111.5(ADAR):c.3316-4C>T rs765304172
NM_001111.5(ADAR):c.3316-8A>C rs767832906
NM_001111.5(ADAR):c.3363T>A (p.Thr1121=) rs373934702
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.518A>G (p.Asn173Ser) rs201331183
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111.5(ADAR):c.582G>A (p.Leu194=) rs762045154
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561

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.