List of variants in gene GLDC reported as likely pathogenic by Counsyl

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: 39

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)	rs386833549	0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)	rs386833553	0.00004
NM_000170.3(GLDC):c.2665+1G>C	rs149070244	0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)	rs1207147043	0.00003
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)	rs751822565	0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)	rs386833589	0.00002
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)	rs1406713104	0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs)	rs1251443902	0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	rs386833524	0.00001
NM_000170.3(GLDC):c.1401+1G>A	rs1211616091	0.00001
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)	rs1554646529	0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)	rs386833531	0.00001
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)	rs373618804	0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	rs386833587	0.00001
NM_000170.3(GLDC):c.1054del (p.Thr352fs)	rs386833518
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)	rs570097430
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter)	rs1226098656
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)	rs777365335
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val)	rs1554646653
NM_000170.3(GLDC):c.1850+1G>T	rs774099283
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)	rs772068893
NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs)	rs1196401015
NM_000170.3(GLDC):c.2315+2T>A	rs1554643738
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)	rs1477860542
NM_000170.3(GLDC):c.2458-1G>T	rs1554643370
NM_000170.3(GLDC):c.2458-2A>G	rs1259354298
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)	rs766762760
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)	rs1554643360
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)	rs925908885
NM_000170.3(GLDC):c.2666-1G>A	rs1429861000
NM_000170.3(GLDC):c.2838+2T>C	rs1554641887
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs)	rs1554641737
NM_000170.3(GLDC):c.28del (p.Leu10fs)	rs386833574
NM_000170.3(GLDC):c.334+1G>C	rs978795483
NM_000170.3(GLDC):c.335-1G>C	rs1554649675
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)	rs1554652870
NM_000170.3(GLDC):c.793del (p.Gln265fs)	rs386833586

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.