ClinVar Miner

List of variants studied for Fucosidosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 12
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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.1000A>T (p.Asn334Tyr) rs776913133 0.00001
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter) rs80358196 0.00001
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter) rs776845108 0.00001
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter) rs764863416
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.194G>A (p.Gly65Asp) rs1353778985
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter) rs781230182
NM_000147.5(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886

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