ClinVar Miner

List of variants reported as likely pathogenic for fucosidosis by Centogene AG - the Rare Disease Company

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)	rs1639470403

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