ClinVar Miner

List of variants reported as pathogenic for Fucosidosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 2

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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.648C>A (p.Tyr216Ter)	rs80358198

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