List of variants reported as pathogenic for disorder of glycolysis by Juno Genomics, Hangzhou Juno Genomics, Inc

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_000162.5(GCK):c.127C>T (p.Arg43Cys)	rs1486280029
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)	rs751279776
NM_000162.5(GCK):c.790G>A (p.Gly264Ser)	rs193929373
NM_000162.5(GCK):c.800dup (p.Asp267fs)
NM_000207.3(INS):c.94G>A (p.Gly32Ser)	rs80356664
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)	rs1593060890
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	rs1057520779
NM_175914.5(HNF4A):c.583-1G>A

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.