List of variants reported as pathogenic for fucosidosis by OMIM

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Total variants: 11

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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.1229T>G (p.Leu410Arg)	rs80358199	0.00001
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)	rs80358196	0.00001
NG_013346.1:g.(24722_27196)_(28294_?)del
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)	rs80358195
NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter)	rs80358197
NM_000147.5(FUCA1):c.437del (p.Pro146fs)
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter)	rs80358198
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
NM_000147.5(FUCA1):c.810del (p.Cys271fs)	rs1557510081
NM_000147.5(FUCA1):c.969+1G>A	rs1570679652

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