ClinVar Miner

List of variants reported as pathogenic for Fucosidosis

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450 0.00002
NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter) rs80358197 0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199 0.00001
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter) rs80358196 0.00001
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter) rs997047045 0.00001
NM_000147.5(FUCA1):c.661del (p.Ser221fs) rs774846977 0.00001
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter) rs776845108 0.00001
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) rs587779399 0.00001
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600 0.00001
NC_000001.10:g.(?_24172205)_(24194776_?)del
NC_000001.10:g.(?_24175119)_(24175349_?)del
NC_000001.10:g.(?_24180830)_(24189781_?)del
NC_000001.10:g.(?_24191961)_(24194776_?)del
NC_000001.11:g.(?_23859778)_(23859923_?)del
NG_013346.1:g.(24722_27196)_(28294_?)del
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter) rs1557506070
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter) rs2521635192
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000147.5(FUCA1):c.1123del (p.Trp375fs) rs2521634585
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter) rs2521634441
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter) rs1026833196
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter) rs764863416
NM_000147.5(FUCA1):c.1260+2T>A rs2521617594
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs) rs1186488065
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs) rs1334038475
NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs) rs1263748674
NM_000147.5(FUCA1):c.170del (p.Lys57fs) rs1639663980
NM_000147.5(FUCA1):c.191G>A (p.Trp64Ter)
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp) rs1353778985
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.237del (p.Trp79fs) rs1639662557
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter) rs550501788
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter) rs140858903
NM_000147.5(FUCA1):c.293dup (p.Pro99fs) rs2521759907
NM_000147.5(FUCA1):c.355_364del (p.Glu119fs) rs1330811896
NM_000147.5(FUCA1):c.390-95_768+150del
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter) rs781230182
NM_000147.5(FUCA1):c.437del (p.Pro146fs) rs2521745894
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter) rs2521745643
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs) rs2521745475
NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe) rs587779398
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter) rs776324076
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter) rs760219584
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter) rs189315801
NM_000147.5(FUCA1):c.577dup (p.Tyr193fs) rs2521731093
NM_000147.5(FUCA1):c.607del (p.Thr203fs) rs2521730880
NM_000147.5(FUCA1):c.610_614del (p.Gln204fs) rs2521730814
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter) rs80358198
NM_000147.5(FUCA1):c.662+5G>C rs941666554
NM_000147.5(FUCA1):c.671del (p.Pro224fs) rs2148446020
NM_000147.5(FUCA1):c.679_683del (p.Ile227fs) rs1267309141
NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter) rs1267309141
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter) rs1441298926
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter) rs1484147379
NM_000147.5(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.5(FUCA1):c.82del (p.Val28fs) rs1639666186
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000147.5(FUCA1):c.969+1G>A rs1570679652
NM_000147.5(FUCA1):c.969+1G>T rs1570679652
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu) rs1177361428

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