ClinVar Miner

List of variants reported as benign for Aicardi-Goutieres syndrome 4 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=) rs11554400 0.06936
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284 0.06918
NM_006397.3(RNASEH2A):c.550-11T>C rs7247253 0.06913
NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=) rs7257575 0.06903
NM_006397.3(RNASEH2A):c.637+13G>A rs73503453 0.05671
NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=) rs76634951 0.02157
NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782 0.01693
NM_006397.3(RNASEH2A):c.412-6T>G rs192358167 0.00277
NM_006397.3(RNASEH2A):c.339G>T (p.Leu113=) rs145176499 0.00163
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021 0.00038
NM_006397.3(RNASEH2A):c.411+17T>A rs185730742 0.00031
NM_006397.3(RNASEH2A):c.549+10dup
NM_006397.3(RNASEH2A):c.550-9dup

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.