ClinVar Miner

List of variants in gene combination FUCA1, LOC126805661 reported as likely pathogenic for Fucosidosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.418G>A (p.Glu140Lys)
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)	rs753232669
NM_000147.5(FUCA1):c.524+1G>T

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