ClinVar Miner

List of variants in gene ALG1, EEF2KMT studied for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu) rs9745522 0.11789
NM_019109.5(ALG1):c.*787C>G rs142385356 0.00184
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val) rs370439294 0.00024
NM_019109.5(ALG1):c.1281T>C (p.Phe427=) rs538385814 0.00014
NM_019109.5(ALG1):c.1288C>A (p.Pro430Thr) rs376032057 0.00013
NM_019109.5(ALG1):c.1264-11T>G rs1047764 0.00006
NM_019109.5(ALG1):c.1392A>G (p.Thr464=) rs1957097874 0.00005
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys) rs540792178 0.00004
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu) rs397839861 0.00004
NM_019109.5(ALG1):c.1353G>A (p.Glu451=) rs772562254 0.00004
NM_019109.5(ALG1):c.1275A>C (p.Ser425=) rs746944961 0.00003
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln) rs3204229 0.00003
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg) rs1281758881 0.00002
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp) rs764363207 0.00002
NM_019109.5(ALG1):c.1369G>A (p.Val457Met) rs574420062 0.00002
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr) rs765599429 0.00002
NM_019109.5(ALG1):c.1264-17T>A rs998447141 0.00001
NM_019109.5(ALG1):c.1264-17del rs1567173078 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.1312C>T (p.Arg438Trp) rs16835020 0.00001
NM_019109.5(ALG1):c.1341C>G (p.Leu447=) rs1957094288 0.00001
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter) rs1047747 0.00001
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln) rs777417788 0.00001
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly) rs1277289881 0.00001
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu) rs1957095637 0.00001
NM_019109.5(ALG1):c.1360G>A (p.Val454Met) rs1957095896 0.00001
NM_019109.5(ALG1):c.1365G>C (p.Gln455His) rs924785074 0.00001
NM_019109.5(ALG1):c.1374C>T (p.Leu458=) rs776869363 0.00001
NC_000016.10:g.(?_5080946)_(5097739_?)del
NC_000016.9:g.(?_5121851)_(5134882_?)del
NC_000016.9:g.(?_5125369)_(5134882_?)del
NC_000016.9:g.(?_5127426)_(5134882_?)del
NC_000016.9:g.(?_5132540)_(5134882_?)del
NC_000016.9:g.(?_5132540)_(5134882_?)dup
NC_000016.9:g.(?_5133663)_(5134882_?)del
NC_000016.9:g.(?_5134731)_(5134882_?)dup
NM_019109.5(ALG1):c.1264-10T>G rs750228219
NM_019109.5(ALG1):c.1264-12A>T rs2505879678
NM_019109.5(ALG1):c.1264-12_1264-6del
NM_019109.5(ALG1):c.1264-16C>G rs756336644
NM_019109.5(ALG1):c.1264-18C>G rs2142732074
NM_019109.5(ALG1):c.1264-2A>G
NM_019109.5(ALG1):c.1264-3C>T rs780078713
NM_019109.5(ALG1):c.1264-4G>C rs758181814
NM_019109.5(ALG1):c.1264-5del rs1381360907
NM_019109.5(ALG1):c.1264-5dup rs1381360907
NM_019109.5(ALG1):c.1264-9T>A rs3187779
NM_019109.5(ALG1):c.1265T>C (p.Met422Thr)
NM_019109.5(ALG1):c.1272C>T (p.Phe424=) rs1957089844
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys) rs1957090242
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr) rs2142732373
NM_019109.5(ALG1):c.1302A>T (p.Leu434=) rs2505880041
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.1314G>C (p.Arg438=) rs2505880132
NM_019109.5(ALG1):c.1317G>A (p.Lys439=) rs2505880151
NM_019109.5(ALG1):c.1324C>A (p.Arg442=) rs764363207
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln) rs758197753
NM_019109.5(ALG1):c.1326G>A (p.Arg442=) rs2505880228
NM_019109.5(ALG1):c.1329G>A (p.Glu443=) rs1063203
NM_019109.5(ALG1):c.1332G>A (p.Ser444=) rs554183734
NM_019109.5(ALG1):c.1335G>A (p.Gln445=) rs781062307
NM_019109.5(ALG1):c.1344A>G (p.Arg448=) rs1397097240
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg) rs144047909
NM_019109.5(ALG1):c.1348G>A (p.Asp450Asn)
NM_019109.5(ALG1):c.1365G>A (p.Gln455=) rs924785074
NM_019109.5(ALG1):c.1368T>A (p.Thr456=) rs1455567093
NM_019109.5(ALG1):c.1371G>A (p.Val457=)
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu) rs2505880725
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr) rs1957097146
NM_201400.4(EEF2KMT):c.*1074C>T rs1957081691

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