ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance by Stanford Center for Inherited Cardiovascular Disease,Stanford University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) rs746923506
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.357A>G (p.Gln119=) rs531782624
NM_015120.4(ALMS1):c.6302A>T (p.Lys2101Ile) rs373286582
NM_015120.4(ALMS1):c.6710C>T (p.Pro2237Leu) rs201737248
NM_015120.4(ALMS1):c.8414G>A (p.Arg2805His) rs201252809
NM_015120.4(ALMS1):c.8923C>T (p.Pro2975Ser) rs1043429291
NM_015120.4(ALMS1):c.9715C>T (p.Arg3239Cys) rs201252375

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.