ClinVar Miner

List of variants in gene FUCA1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_000147.4(FUCA1):c.*270T>C rs143441916
NM_000147.4(FUCA1):c.*286C>A rs886046324
NM_000147.4(FUCA1):c.*438_*442del rs886046323
NM_000147.4(FUCA1):c.*527A>G rs886046322
NM_000147.4(FUCA1):c.*544T>A rs886046321
NM_000147.4(FUCA1):c.-44G>A rs139832548
NM_000147.4(FUCA1):c.1119A>G (p.Lys373=) rs370453371
NM_000147.4(FUCA1):c.1274G>A (p.Gly425Glu) rs150422575
NM_000147.4(FUCA1):c.167C>G (p.Ala56Gly) rs886046325
NM_000147.4(FUCA1):c.209C>T (p.Pro70Leu) rs770492031
NM_000147.4(FUCA1):c.30G>C (p.Pro10=) rs886046326
NM_000147.4(FUCA1):c.405G>A (p.Thr135=) rs145153173
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.4(FUCA1):c.433T>C (p.Trp145Arg) rs150062050
NM_000147.4(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.4(FUCA1):c.649G>A (p.Asp217Asn) rs781345107
NM_000147.4(FUCA1):c.825A>T (p.Gly275=) rs199675692
NM_000147.4(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600
NM_000147.4(FUCA1):c.923G>A (p.Arg308His) rs372537257
NM_000147.4(FUCA1):c.936G>A (p.Leu312=) rs140932886
NM_000147.4(FUCA1):c.943G>A (p.Val315Ile) rs746590345
NM_000147.5(FUCA1):c.*342C>A
NM_000147.5(FUCA1):c.*97T>C
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
NM_000147.5(FUCA1):c.1260+7A>C
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
NM_000147.5(FUCA1):c.389+15G>C
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)
NM_000147.5(FUCA1):c.472G>A (p.Val158Met)
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
NM_000147.5(FUCA1):c.82del (p.Val28fs)
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)

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