List of variants in gene combination CGREF1, KHK reported as benign for carbohydrate metabolism disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006488.3(KHK):c.*767C>T	rs1131375	0.32419
NM_006488.3(KHK):c.*580T>C	rs7573066	0.03950
NM_006488.3(KHK):c.*754T>C	rs73921452	0.02190
NM_006488.3(KHK):c.*806G>A	rs113859516	0.02073
NM_006488.3(KHK):c.*79G>A	rs75067630	0.01036
NM_006569.6(CGREF1):c.*515A>C	rs78413769	0.01034
NM_006488.3(KHK):c.*540G>C	rs60769101	0.00934
NM_006488.3(KHK):c.879C>A (p.Gly293=)	rs116026105	0.00740
NM_006569.6(CGREF1):c.*516C>T	rs114062151	0.00364
NM_006488.3(KHK):c.811+5G>C	rs7578864	0.00289
NM_006488.3(KHK):c.*505G>A	rs78939351	0.00094
NM_006488.3(KHK):c.*554C>T	rs558714226	0.00004

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.