ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
NM_000308.3(CTSA):c.746+3A>G rs786200859
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_138413.4(HOGA1):c.700+5G>T rs185803104
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360

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.