ClinVar Miner

List of variants reported as pathogenic for ALG1-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe) rs200605408 0.00004
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter) rs780107088 0.00004
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.1129A>G (p.Met377Val) rs387906925 0.00001
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp) rs16835020 0.00001
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter) rs750451819 0.00001
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg) rs121908340 0.00001
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter) rs1474783444 0.00001
NM_019109.5(ALG1):c.621G>A (p.Trp207Ter) rs1956935335 0.00001
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter) rs1372794201 0.00001
GRCh37/hg19 16p13.3(chr16:5121789-5133778)
GRCh37/hg19 16p13.3(chr16:5129043-5129828)
Multiple alleles
NC_000016.9:g.(?_5121851)_(5125557_?)del
NC_000016.9:g.(?_5121851)_(5134882_?)del
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) rs794726944
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg) rs398124347
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)
NM_019109.5(ALG1):c.1063del (p.Leu355fs) rs758259853
NM_019109.5(ALG1):c.1073-2A>G rs1957033825
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu) rs1299775990
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)
NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln) rs1596261208
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr) rs1596261268
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu) rs1386102245
NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter) rs387906927
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)
NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)
NM_019109.5(ALG1):c.1263+2T>C
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_019109.5(ALG1):c.164dup (p.Leu56fs)
NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)
NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu) rs1596252105
NM_019109.5(ALG1):c.301_302dup (p.Gln102fs)
NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter) rs199553558
NM_019109.5(ALG1):c.318dup (p.Val107fs)
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter) rs776990436
NM_019109.5(ALG1):c.398_399insCA (p.Gly134fs) rs1956891979
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg) rs121908340
NM_019109.5(ALG1):c.486dup (p.Ile163fs)
NM_019109.5(ALG1):c.512dup (p.Asn171fs)
NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)
NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)
NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)
NM_019109.5(ALG1):c.710del (p.Leu237fs)
NM_019109.5(ALG1):c.711_726del (p.Gly238fs) rs756236917
NM_019109.5(ALG1):c.739del (p.Arg247fs)
NM_019109.5(ALG1):c.740_740+5delinsTGTAGA
NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)
NM_019109.5(ALG1):c.786del (p.Glu262fs)
NM_019109.5(ALG1):c.791_804del (p.Asp264fs) rs2142715856
NM_019109.5(ALG1):c.875del (p.Phe292fs)
NM_019109.5(ALG1):c.87_91del (p.Arg30fs)
NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)
NM_019109.5(ALG1):c.91del (p.Ala31fs)
NM_019109.5(ALG1):c.920_921del (p.Leu307fs)
NM_019109.5(ALG1):c.969del (p.Pro324fs)

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.