ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000147.5(FUCA1):c.768+1G>A
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs)
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_006516.3(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845

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