ClinVar Miner

List of variants in gene combination KAT5, RNASEH2C reported as benign for Aicardi-Goutieres syndrome

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.*1527A>C rs521678 0.88416
NM_032193.4(RNASEH2C):c.*1917T>C rs535111 0.37725
NM_032193.4(RNASEH2C):c.*2036C>T rs3372 0.30708
NM_032193.4(RNASEH2C):c.*1776C>T rs4645936 0.03991
NM_032193.4(RNASEH2C):c.*2097C>T rs4645934 0.03137
NM_032193.4(RNASEH2C):c.*1007C>G rs112903919 0.01000
NM_032193.4(RNASEH2C):c.*1295T>C rs4645937 0.00847
NM_032193.4(RNASEH2C):c.*1621A>G rs373799308 0.00007
NM_032193.4(RNASEH2C):c.*572C>T rs200332583 0.00002
NM_032193.4(RNASEH2C):c.*948dup rs142614068

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.