List of variants in gene FUCA1, LOC129929685 studied for fucosidosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.389+14C>T	rs553138426	0.00148
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu)	rs980153372	0.00001
NM_000147.5(FUCA1):c.375G>A (p.Gln125=)
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val)	rs780117609
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)
NM_000147.5(FUCA1):c.389+13C>A
NM_000147.5(FUCA1):c.389+14C>G
NM_000147.5(FUCA1):c.389+15G>C	rs1395597191
NM_000147.5(FUCA1):c.389+18G>A
NM_000147.5(FUCA1):c.389+18del
NM_000147.5(FUCA1):c.389+20G>A
NM_000147.5(FUCA1):c.389+4A>C
NM_000147.5(FUCA1):c.389+6T>C	rs577790391

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