ClinVar Miner

List of variants reported as benign for fucosidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.27120
NM_000147.4(FUCA1):c.-12T>C rs2070954 0.11405
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282

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