ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas and "benign" from GeneDx

Minimum review status of the submission from HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas: Collection method of the submission from HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_005656.4(TMPRSS2):c.478G>A (p.Val160Met) rs12329760 0.25326
NM_001001331.4(ATP2B2):c.1551C>T (p.Gly517=) rs2289273 0.10735
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905

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.