ClinVar Miner

List of variants studied for Progressive familial intrahepatic cholestasis 2 by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192

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.