ClinVar Miner

List of variants studied 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: 38
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HGVS dbSNP
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
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_000152.5(GAA):c.1336A>G (p.Ile446Val)
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs)
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
NM_000292.3(PHKA2):c.2597+2dup
NM_000293.3(PHKB):c.1405C>T (p.Arg469Cys)
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_002076.4(GNS):c.746A>C (p.Gln249Pro)
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala)
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_003041.4(SLC5A2):c.1274T>A (p.Val425Glu)
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)
NM_006516.3(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.3(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.3(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
NM_018297.4(NGLY1):c.1260G>C (p.Gln420His)
NM_144563.3(RPIA):c.596+3A>G
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845

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