ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation with defective fucosylation by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_145059.3(FCSK):c.1955C>T (p.Ala652Val) rs201433219 0.00011
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro) rs769009456 0.00007
NM_001371533.1(FUT8):c.1675C>T (p.Arg559Ter) rs769250336
NM_001371533.1(FUT8):c.1691C>T (p.Thr564Met)
NM_145059.3(FCSK):c.2186A>G (p.Tyr729Cys) rs1223202082

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