ClinVar Miner

List of variants studied for fucosidosis by Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.170del (p.Lys57fs) rs1639663980
NM_000147.5(FUCA1):c.237del (p.Trp79fs) rs1639662557
NM_000147.5(FUCA1):c.662+5G>C rs941666554
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu) rs1177361428

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