ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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_000060.2(BTD):c.[511G>A;1330G>C]
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_002294.3(LAMP2):c.65-2A>G rs397516743
NM_002294.3(LAMP2):c.864+1G>T rs727503119
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) rs786204785
NM_004130.3(GYG1):c.487del (p.Asp163fs) rs727502871
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_006755.1(TALDO1):c.516dupC rs797045110
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_013995.2(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_013995.2(LAMP2):c.121del (p.Cys41fs) rs727504600
NM_013995.2(LAMP2):c.851_852del (p.Phe284fs) rs727504648
NM_138413.4(HOGA1):c.700+5G>T rs185803104
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523

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.