ClinVar Miner

List of variants in gene FUCA1 reported as uncertain significance for fucosidosis

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=) rs370453371 0.00047
NM_000147.5(FUCA1):c.1274G>A (p.Gly425Glu) rs150422575 0.00037
NM_000147.4(FUCA1):c.-44G>A rs139832548 0.00029
NM_000147.5(FUCA1):c.260C>T (p.Pro87Leu) rs138378067 0.00022
NM_000147.5(FUCA1):c.*270T>C rs143441916 0.00020
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys) rs201209052 0.00012
NM_000147.5(FUCA1):c.34G>T (p.Gly12Cys) rs530854024 0.00010
NM_000147.5(FUCA1):c.825A>T (p.Gly275=) rs199675692 0.00010
NM_000147.5(FUCA1):c.11C>T (p.Pro4Leu) rs747889861 0.00009
NM_000147.5(FUCA1):c.1A>G (p.Met1Val) rs558338123 0.00007
NM_000147.5(FUCA1):c.923G>A (p.Arg308His) rs372537257 0.00006
NM_000147.5(FUCA1):c.1178C>T (p.Ser393Leu) rs149168482 0.00005
NM_000147.5(FUCA1):c.37C>T (p.Pro13Ser) rs569701574 0.00005
NM_000147.5(FUCA1):c.936G>A (p.Leu312=) rs140932886 0.00005
NM_000147.5(FUCA1):c.1360G>A (p.Ala454Thr) rs377360830 0.00004
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn) rs781345107 0.00004
NM_000147.5(FUCA1):c.*342C>A rs1023386054 0.00003
NM_000147.5(FUCA1):c.*97T>C rs1639121464 0.00003
NM_000147.5(FUCA1):c.1190C>T (p.Ala397Val) rs766121368 0.00003
NM_000147.5(FUCA1):c.1260+7A>C rs771229488 0.00002
NM_000147.5(FUCA1):c.*527A>G rs886046322 0.00001
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala) rs769788583 0.00001
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg) rs749269943 0.00001
NM_000147.5(FUCA1):c.1126C>T (p.Arg376Trp) rs548735209 0.00001
NM_000147.5(FUCA1):c.1378A>G (p.Ile460Val) rs774128532 0.00001
NM_000147.5(FUCA1):c.137C>G (p.Ser46Cys) rs367641377 0.00001
NM_000147.5(FUCA1):c.193G>A (p.Gly65Ser) rs763135982 0.00001
NM_000147.5(FUCA1):c.30G>C (p.Pro10=) rs886046326 0.00001
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu) rs777581303 0.00001
NM_000147.5(FUCA1):c.525-3A>G rs766757100 0.00001
NM_000147.5(FUCA1):c.533G>A (p.Arg178His) rs145537354 0.00001
NM_000147.5(FUCA1):c.658A>C (p.Asn220His) rs755082816 0.00001
NM_000147.5(FUCA1):c.677T>G (p.Leu226Arg) rs770733586 0.00001
NM_000147.5(FUCA1):c.919C>T (p.Arg307Cys) rs773719849 0.00001
NC_000001.10:g.(?_24172205)_(24172683_?)dup
NC_000001.10:g.(?_24172205)_(24194776_?)dup
NM_000147.5(FUCA1):c.*286C>A rs886046324
NM_000147.5(FUCA1):c.*438_*442del rs886046323
NM_000147.5(FUCA1):c.*544T>A rs886046321
NM_000147.5(FUCA1):c.1016T>C (p.Ile339Thr)
NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val)
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu) rs1393793214
NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu)
NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr)
NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg)
NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser)
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln) rs80358195
NM_000147.5(FUCA1):c.1174G>A (p.Gly392Arg) rs1639135764
NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr)
NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile)
NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val)
NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile)
NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile)
NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser)
NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala)
NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly)
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter) rs1639127458
NM_000147.5(FUCA1):c.1309G>C (p.Asp437His) rs1639125891
NM_000147.5(FUCA1):c.1384C>A (p.Leu462Met) rs770042348
NM_000147.5(FUCA1):c.1392A>T (p.Gly464=) rs2148436869
NM_000147.5(FUCA1):c.167C>G (p.Ala56Gly) rs886046325
NM_000147.5(FUCA1):c.16A>G (p.Met6Val)
NM_000147.5(FUCA1):c.185T>G (p.Ile62Ser) rs2148450635
NM_000147.5(FUCA1):c.187C>T (p.His63Tyr) rs2148450632
NM_000147.5(FUCA1):c.209C>T (p.Pro70Leu) rs770492031
NM_000147.5(FUCA1):c.212C>T (p.Ala71Val) rs1224396509
NM_000147.5(FUCA1):c.266A>T (p.Tyr89Phe)
NM_000147.5(FUCA1):c.31G>T (p.Ala11Ser) rs1455700210
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu) rs1639658693
NM_000147.5(FUCA1):c.360G>T (p.Trp120Cys) rs758745364
NM_000147.5(FUCA1):c.46_48dup (p.Leu20_Phe21insLeu)
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup) rs756742678
NM_000147.5(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.5(FUCA1):c.4C>G (p.Arg2Gly) rs2070955
NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu)
NM_000147.5(FUCA1):c.574C>G (p.Leu192Val) rs2148447710
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile) rs1639545879
NM_000147.5(FUCA1):c.5G>A (p.Arg2Gln)
NM_000147.5(FUCA1):c.606A>C (p.Lys202Asn)
NM_000147.5(FUCA1):c.614A>G (p.His205Arg) rs2148447684
NM_000147.5(FUCA1):c.655G>T (p.Val219Phe)
NM_000147.5(FUCA1):c.662+3A>G
NM_000147.5(FUCA1):c.663-3C>T
NM_000147.5(FUCA1):c.70G>A (p.Ala24Thr)
NM_000147.5(FUCA1):c.755A>G (p.Asp252Gly) rs779515820
NM_000147.5(FUCA1):c.775G>T (p.Val259Leu)
NM_000147.5(FUCA1):c.781G>A (p.Val261Ile)
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr) rs61996282
NM_000147.5(FUCA1):c.82del (p.Val28fs) rs1639666186
NM_000147.5(FUCA1):c.849C>A (p.Phe283Leu) rs754452752
NM_000147.5(FUCA1):c.863T>G (p.Leu288Trp)
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu) rs1639666097
NM_000147.5(FUCA1):c.871C>G (p.His291Asp) rs2148442832
NM_000147.5(FUCA1):c.89G>C (p.Arg30Pro)
NM_000147.5(FUCA1):c.8C>T (p.Ala3Val)
NM_000147.5(FUCA1):c.905T>C (p.Phe302Ser)
NM_000147.5(FUCA1):c.908C>T (p.Ser303Phe)
NM_000147.5(FUCA1):c.910T>C (p.Trp304Arg) rs2148442806
NM_000147.5(FUCA1):c.917A>G (p.Tyr306Cys)
NM_000147.5(FUCA1):c.917A>T (p.Tyr306Phe) rs749790121
NM_000147.5(FUCA1):c.91G>A (p.Ala31Thr) rs774539460
NM_000147.5(FUCA1):c.920G>A (p.Arg307His)
NM_000147.5(FUCA1):c.943G>A (p.Val315Ile) rs746590345
NM_000147.5(FUCA1):c.949G>A (p.Glu317Lys)
NM_000147.5(FUCA1):c.969+5G>A
NM_000147.5(FUCA1):c.969G>A (p.Ser323=)
NM_000147.5(FUCA1):c.971A>G (p.Glu324Gly)
NM_000147.5(FUCA1):c.998G>A (p.Gly333Asp)

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