ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Mendelics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.134C>A (p.Ser45Ter) rs111033652
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp) rs1599253815
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
NM_000292.3(PHKA2):c.1138-2A>G rs1601748216
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) rs1601776523
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) rs1601687244
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629
NM_000352.6(ABCC8):c.598del (p.Thr200fs) rs1591890137
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000398.7(CYB5R3):c.226+2T>C rs1601938489
NM_000398.7(CYB5R3):c.464-2A>C rs794728013
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter) rs1570445130
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter) rs370202718
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter) rs1570487381
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) rs1571232325
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
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.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter) rs606231310
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_006516.3(SLC2A1):c.274del (p.Arg92fs) rs1570593820
NM_006516.3(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.3(SLC2A1):c.624del (p.Glu209fs) rs1570592844
NM_006516.3(SLC2A1):c.625G>T (p.Glu209Ter) rs1387203768
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221

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.