List of variants reported as likely pathogenic for Fucosidosis by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)	rs776913133	0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)	rs80358199	0.00001
NC_000001.10:g.(?_24186268)_(24186413_?)dup
NM_000147.5(FUCA1):c.1261-1G>A	rs2521616187
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)	rs2521760820
NM_000147.5(FUCA1):c.389+2T>G
NM_000147.5(FUCA1):c.662_662+8del	rs766794815
NM_000147.5(FUCA1):c.663-1G>C
NM_000147.5(FUCA1):c.768+1G>A	rs1639468949
NM_000147.5(FUCA1):c.768+1G>T	rs1639468949
NM_000147.5(FUCA1):c.768+2T>C
NM_000147.5(FUCA1):c.769-2A>C	rs1250037816

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