ClinVar Miner

List of variants studied for Glycine encephalopathy by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val) rs121964977 0.00001
NM_000170.3(GLDC):c.943G>A (p.Gly315Ser) rs1292183482 0.00001
NM_000170.3(GLDC):c.1155+1G>T
NM_000170.3(GLDC):c.1493C>T (p.Ala498Val)
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1812del (p.Glu604fs) rs2129831647
NM_000170.3(GLDC):c.1927-4G>A rs576723612
NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter) rs147951756
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2315+2T>G rs1554643738
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.3(GLDC):c.391A>T (p.Arg131Ter)
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter) rs1818703974
NM_000170.3(GLDC):c.941T>C (p.Leu314Pro)

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.