List of variants reported as uncertain significance for Glycine encephalopathy by 3billion, Medical Genetics

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser)	rs769609020	0.00002
NM_000170.3(GLDC):c.1726T>G (p.Phe576Val)	rs2129832067
NM_000170.3(GLDC):c.2552T>G (p.Leu851Arg)	rs753948580
NM_000170.3(GLDC):c.2690G>T (p.Trp897Leu)
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)	rs768940499
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)	rs753221440
NM_000481.4(AMT):c.970_972del (p.Met324del)	rs386833691
NM_004483.5(GCSH):c.425G>T (p.Gly142Val)

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.