ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NC_012920.1:m.3243A>G rs199474657
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) rs104894569
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001931.5(DLAT):c.976-1G>A rs367875541
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713

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.