ClinVar Miner

List of variants reported as not provided for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) rs1553690406
NM_000203.5(IDUA):c.1728-1G>C rs1249951282
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479
NM_000292.3(PHKA2):c.2137+5G>A rs372314504
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg) rs1372801499
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246
NM_001270397.2(G6PC1):c.*57G>A rs515726229
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu) rs1131691586
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892
NM_003477.3(PDHX):c.479G>A (p.Arg160His) rs747386411
NM_004563.4(PCK2):c.1468+2T>C rs148019349
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) rs267606993
NM_005908.4(MANBA):c.378+1G>A rs142029636
NM_006516.3(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723
NM_006516.3(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr) rs376434268
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108
NM_053013.4(ENO3):c.240+13G>T rs1555553596
NM_145262.4(GLYCTK):c.1448del (p.Phe483fs) rs121909447
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_145262.4(GLYCTK):c.1558del (p.Leu520fs) rs121909449
Single allele

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