List of variants in gene combination FUCA1, LOC129929685 reported as uncertain significance 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)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)	rs765520069	0.00001
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu)	rs980153372	0.00001
NM_000147.5(FUCA1):c.389+15G>C	rs1395597191	0.00001
NM_000147.5(FUCA1):c.389+6T>C	rs577790391	0.00001
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val)	rs780117609
NM_000147.5(FUCA1):c.389+4A>C	rs2521758677

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