List of variants in gene combination FUCA1, LOC129929685 reported as likely benign 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.389+20G>A	rs1199190783	0.00005
NM_000147.5(FUCA1):c.375G>A (p.Gln125=)	rs1411389016	0.00001
NM_000147.5(FUCA1):c.389+15G>C	rs1395597191	0.00001
NM_000147.5(FUCA1):c.389+18G>A	rs764568139	0.00001
NM_000147.5(FUCA1):c.389+13C>A	rs2521758616
NM_000147.5(FUCA1):c.389+14C>G	rs553138426

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