ClinVar Miner

List of variants in gene combination LOC117038795, RNASEH2A reported as likely benign for Aicardi-Goutieres syndrome

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.127+14G>T rs758619313 0.00012
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=) rs375139492 0.00011
NM_006397.3(RNASEH2A):c.108G>A (p.Ala36=) rs774063653 0.00006
NM_006397.3(RNASEH2A):c.127+16C>T rs780296539 0.00005
NM_006397.3(RNASEH2A):c.46C>T (p.Leu16=) rs540611823 0.00004
NM_006397.3(RNASEH2A):c.102T>C (p.Asp34=)
NM_006397.3(RNASEH2A):c.120C>A (p.Pro40=) rs754428850
NM_006397.3(RNASEH2A):c.120C>G (p.Pro40=) rs754428850
NM_006397.3(RNASEH2A):c.120C>T (p.Pro40=)
NM_006397.3(RNASEH2A):c.123G>C (p.Val41=)
NM_006397.3(RNASEH2A):c.127+10T>A
NM_006397.3(RNASEH2A):c.127+12G>T
NM_006397.3(RNASEH2A):c.127+15C>T
NM_006397.3(RNASEH2A):c.127+17A>G rs751674576
NM_006397.3(RNASEH2A):c.127+7C>T
NM_006397.3(RNASEH2A):c.127+8C>T
NM_006397.3(RNASEH2A):c.127+9C>T
NM_006397.3(RNASEH2A):c.15G>A (p.Glu5=)
NM_006397.3(RNASEH2A):c.16C>T (p.Leu6=) rs2145823986
NM_006397.3(RNASEH2A):c.18G>A (p.Leu6=)
NM_006397.3(RNASEH2A):c.21G>A (p.Glu7=)
NM_006397.3(RNASEH2A):c.45C>A (p.Arg15=)
NM_006397.3(RNASEH2A):c.54G>T (p.Ser18=)
NM_006397.3(RNASEH2A):c.63C>T (p.Pro21=) rs747090950
NM_006397.3(RNASEH2A):c.81G>A (p.Glu27=)
NM_006397.3(RNASEH2A):c.87C>T (p.Cys29=)
NM_006397.3(RNASEH2A):c.96C>A (p.Gly32=)

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.