ClinVar Miner

List of variants reported as uncertain significance for fucosidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):

Fucosidosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)	rs150062050	0.00126
NM_000147.4(FUCA1):c.-44G>A	rs139832548	0.00029
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)	rs80358195

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