ClinVar Miner

List of variants in gene combination ADAR, LOC129931512 reported as uncertain significance for Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.11G>C (p.Arg4Pro)
NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)
NM_001111.5(ADAR):c.15+4A>G rs2101670089
NM_001111.5(ADAR):c.15+6C>G
NM_001111.5(ADAR):c.15+6C>T rs1698312357
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.7C>G (p.Pro3Ala) rs1313399962
NM_001111.5(ADAR):c.7C>T (p.Pro3Ser) rs1313399962

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.