ClinVar Miner

List of variants studied for Alstrom syndrome by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
ALMS1, 19-BP INS
ALMS1, 333-BP ALU INS, EX16
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter) rs397514576
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter) rs193919339
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter) rs193919338

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.