ClinVar Miner

List of variants in gene combination CCDC40, GAA reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_017950.4(CCDC40):c.*149T>C rs2304852
NM_017950.4(CCDC40):c.*15T>C rs2304853
NM_017950.4(CCDC40):c.*186A>C rs2304851
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854

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.