ClinVar Miner

List of variants reported as pathogenic for Alstrom syndrome by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)

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.