ClinVar Miner

List of variants reported as uncertain significance for fucosidosis by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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.404C>A (p.Thr135Lys)	rs779017131
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)	rs753232669
NM_000147.5(FUCA1):c.82del (p.Val28fs)	rs1639666186

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