ClinVar Miner

List of variants in gene combination ALG1, EEF2KMT reported as uncertain significance for ALG1-congenital disorder of glycosylation

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.*787C>G rs142385356 0.00184
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu) rs397839861 0.00004
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp) rs764363207 0.00002
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr) rs765599429 0.00002
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln) rs3204229 0.00002
NM_019109.5(ALG1):c.1264-11T>G rs1047764 0.00001
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr) rs1413293071 0.00001
NM_019109.5(ALG1):c.1293G>A (p.Ala431=) rs1047714 0.00001
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg) rs1281758881 0.00001
NM_019109.5(ALG1):c.1360G>A (p.Val454Met) rs1957095896 0.00001
NC_000016.9:g.(?_5132540)_(5134882_?)dup
NC_000016.9:g.(?_5134731)_(5134882_?)dup
NM_019109.5(ALG1):c.1264-3C>T rs780078713
NM_019109.5(ALG1):c.1265T>C (p.Met422Thr)
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr) rs2142732373
NM_019109.5(ALG1):c.1288C>A (p.Pro430Thr)
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val) rs370439294
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln) rs758197753
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys) rs540792178
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg) rs144047909
NM_019109.5(ALG1):c.1348G>A (p.Asp450Asn)
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)
NM_019109.5(ALG1):c.1365G>C (p.Gln455His)
NM_019109.5(ALG1):c.1369G>A (p.Val457Met)
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr) rs1957097146

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.