ClinVar Miner

List of variants studied for carbohydrate metabolism disease by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met) rs764877688 0.00012
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys) rs1567502487

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.