List of variants reported as likely benign for Glycine encephalopathy by Illumina Laboratory Services, Illumina

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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.-186del	rs140030144	0.02402
NM_000170.3(GLDC):c.671G>A (p.Arg224His)	rs28617412	0.02144
NC_000009.12:g.6532460G>C	rs73639311	0.01818
NM_000170.3(GLDC):c.*257G>A	rs111326356	0.00972
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	rs116192290	0.00735
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)	rs535143891	0.00670
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)	rs143119940	0.00650
NM_000170.3(GLDC):c.1707+8G>A	rs144666843	0.00464
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)	rs151268759	0.00400
NM_000170.3(GLDC):c.678C>T (p.His226=)	rs12006003	0.00320
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)	rs141246107	0.00299
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)	rs142099123	0.00242
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)	rs144090917	0.00234
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)	rs139982267	0.00203
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)	rs141152043	0.00200
NM_000170.3(GLDC):c.1927-9A>G	rs41281773	0.00178
NM_000481.4(AMT):c.*130G>T	rs143731179	0.00147
NM_000170.3(GLDC):c.*229C>G	rs184498089	0.00135
NM_000481.4(AMT):c.*416C>T	rs571207015	0.00114
NM_000170.3(GLDC):c.*236G>T	rs537707294	0.00103
NM_000481.4(AMT):c.-76G>C	rs544461335	0.00092
NM_000170.3(GLDC):c.1581-5C>T	rs184463452	0.00021
NM_000170.3(GLDC):c.63C>A (p.Arg21=)	rs372141443	0.00001
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)	rs121964976
NM_000170.3(GLDC):c.2490G>T (p.Thr830=)	rs145407593
NM_000481.4(AMT):c.148G>T (p.Val50Leu)	rs148917929

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.