ClinVar Miner

List of variants in gene FUCA1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Total variants: 91
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HGVS dbSNP
FUCA1, 1-BP DEL, EX2
FUCA1, 1-BP DEL, EX3
FUCA1, 1-BP DEL, EX5
FUCA1, 2-EX DEL
NC_000001.11:g.(?_23859778)_(23859923_?)del
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.-12T>C rs2070954
NM_000147.4(FUCA1):c.-44G>A rs139832548
NM_000147.4(FUCA1):c.-86T>G rs2070953
NM_000147.4(FUCA1):c.1026T>G (p.Thr342=) rs771696380
NM_000147.4(FUCA1):c.1119A>G (p.Lys373=) rs370453371
NM_000147.4(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.4(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001
NM_000147.4(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.4(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852
NM_000147.4(FUCA1):c.1160G>A (p.Trp387Ter) rs80358197
NM_000147.4(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199
NM_000147.4(FUCA1):c.1274G>A (p.Gly425Glu) rs150422575
NM_000147.4(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450
NM_000147.4(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
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.244C>T (p.Gln82Ter) rs80358196
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.4(FUCA1):c.30G>C (p.Pro10=) rs886046326
NM_000147.4(FUCA1):c.327G>A (p.Gln109=) rs61996281
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
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.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.464C>T (p.Ser155Phe) rs587779398
NM_000147.4(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.4(FUCA1):c.4C>T (p.Arg2Trp) rs2070955
NM_000147.4(FUCA1):c.525-8T>G rs41268125
NM_000147.4(FUCA1):c.564G>A (p.Trp188Ter) rs189315801
NM_000147.4(FUCA1):c.648C>A (p.Tyr216Ter) rs80358198
NM_000147.4(FUCA1):c.648C>T (p.Tyr216=) rs80358198
NM_000147.4(FUCA1):c.649G>A (p.Asp217Asn) rs781345107
NM_000147.4(FUCA1):c.759C>T (p.Ser253=) rs757698879
NM_000147.4(FUCA1):c.778G>A (p.Val260Ile) rs665
NM_000147.4(FUCA1):c.790C>T (p.Arg264Ter) rs587779399
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000147.4(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.4(FUCA1):c.825A>T (p.Gly275=) rs199675692
NM_000147.4(FUCA1):c.857A>G (p.Gln286Arg) rs13551
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_000147.4(FUCA1):c.969+1G>A rs1570679652
NM_000147.4(FUCA1):c.969+5G>C rs115939152
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.1359C>T (p.Pro453=)
NM_000147.5(FUCA1):c.144G>A (p.Pro48=)
NM_000147.5(FUCA1):c.170del (p.Lys57fs)
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
NM_000147.5(FUCA1):c.237del (p.Trp79fs)
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.390-95_768+150del
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.532C>T (p.Arg178Cys)
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
NM_000147.5(FUCA1):c.662+5G>C
NM_000147.5(FUCA1):c.662_662+8del
NM_000147.5(FUCA1):c.663-11A>G
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
NM_000147.5(FUCA1):c.768+1G>A
NM_000147.5(FUCA1):c.82del (p.Val28fs)
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu)

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