ClinVar Miner

List of variants reported as uncertain significance for autoinflammatory syndrome of childhood by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198282.4(STING1):c.575G>T (p.Gly192Val) rs201096097 0.00019
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys) rs552778606 0.00001
NM_004371.4(COPA):c.2993C>T (p.Ala998Val) rs761919408 0.00001
NM_198282.4(STING1):c.233G>A (p.Arg78Gln) rs11554775 0.00001
NM_004371.4(COPA):c.1874T>C (p.Ile625Thr) rs2101829131
NM_198282.4(STING1):c.760-2_766delinsTACCT rs2152093375

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.