ClinVar Miner

List of variants in gene KHK reported as benign for Fructosuria, essential

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_006488.3(KHK):c.-245G>A rs192615638
NM_006488.3(KHK):c.-324C>T rs114973335
NM_006488.3(KHK):c.-444C>A rs116365550
NM_006488.3(KHK):c.-449T>G rs116028777
NM_006488.3(KHK):c.-469A>C rs6742004
NM_006488.3(KHK):c.145G>A (p.Val49Ile) rs2304681
NM_006488.3(KHK):c.159C>T (p.Leu53=) rs112920456
NM_006488.3(KHK):c.210-328A>G rs74537742

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.