ClinVar Miner

List of variants studied for fucosidosis by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup) rs756742678
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672

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