ClinVar Miner

List of variants studied for Congenital disorder of glycosylation with defective fucosylation 2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_145059.3(FCSK):c.1000_1018del (p.Glu335fs)
NM_145059.3(FCSK):c.1579C>T (p.Arg527Cys) rs1377077648
NM_145059.3(FCSK):c.286G>A (p.Gly96Ser)
NM_145059.3(FCSK):c.956-1G>A

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