List of variants in gene KHK reported as uncertain significance for Essential fructosuria

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: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006488.3(KHK):c.507C>T (p.Ser169=)	rs148222785	0.00111
NM_006488.3(KHK):c.562G>A (p.Val188Met)	rs41288797	0.00068
NM_006488.3(KHK):c.118G>A (p.Gly40Arg)	rs104893643	0.00024
NM_006488.3(KHK):c.210-211C>T	rs141417422	0.00024
NM_006488.3(KHK):c.48C>T (p.Val16=)	rs200769127	0.00017
NM_006488.3(KHK):c.470A>C (p.Asn157Thr)	rs150233686	0.00009
NM_006488.3(KHK):c.-97G>A	rs886055885	0.00006
NM_006488.3(KHK):c.210-199T>C	rs201650300	0.00006
NM_006488.3(KHK):c.19C>T (p.Leu7=)	rs750201072	0.00005
NM_006488.3(KHK):c.210-334C>T	rs368871098	0.00005
NM_006488.3(KHK):c.473C>A (p.Thr158Asn)	rs773003580	0.00005
NM_006488.3(KHK):c.-379T>A	rs886055883	0.00004
NM_006488.3(KHK):c.210-253G>A	rs780961189	0.00003
NM_006488.3(KHK):c.210-283C>T	rs886055886	0.00002
NM_006488.3(KHK):c.-15T>G	rs763655731	0.00001
NM_006488.3(KHK):c.101C>A (p.Ser34Tyr)	rs746381366	0.00001
NM_006488.3(KHK):c.112C>T (p.Gln38Ter)	rs780406699	0.00001
NM_006488.3(KHK):c.210-200A>G	rs1482514899	0.00001
NM_006488.3(KHK):c.463G>A (p.Ala155Thr)	rs776211460	0.00001
NM_006488.3(KHK):c.499C>T (p.Arg167Trp)	rs886055887	0.00001
NM_006488.3(KHK):c.-140G>A	rs886055884
NM_006488.3(KHK):c.15G>A (p.Gln5=)	rs1669712582
NM_006488.3(KHK):c.210-245C>G	rs202153228
NM_006488.3(KHK):c.238G>A (p.Gly80Ser)
NM_006488.3(KHK):c.500G>A (p.Arg167Gln)	rs201707861
NM_006488.3(KHK):c.557G>A (p.Gly186Glu)	rs886055888
NM_006488.3(KHK):c.643G>C (p.Val215Leu)	rs886055889
NM_006488.3(KHK):c.653+5G>A	rs1670622215

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.