ClinVar Miner

List of variants in gene CA5A reported as likely pathogenic for glucose metabolism disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NC_000016.9:g.(87925561_87935517)_(87970113_?)del
NC_000016.9:g.(?_87935498)_(87938530_?)dup
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter) rs2055884613
NM_001739.2(CA5A):c.618+1G>T

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.