ClinVar Miner

Variants with conflicting interpretations "benign" from H3Africa Consortium and "pathogenic" from any submitter

Minimum review status of the submission from H3Africa Consortium: Collection method of the submission from H3Africa Consortium:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_000579.4(CCR5):c.-229C>T rs41469351 0.06264
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784

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.