ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Wangler Lab, Baylor College of Medicine and "likely pathogenic" from any submitter

Minimum review status of the submission from Wangler Lab, Baylor College of Medicine: Collection method of the submission from Wangler Lab, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009

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.