ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000352.5(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_001040716.2(PC):c.633+2T>C rs763433647
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_018297.4(NGLY1):c.1150-1G>C rs532007026
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282

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