ClinVar Miner

List of variants studied for Alstrom syndrome by Genetic Services Laboratory,University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150

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.