List of variants reported as likely pathogenic for congenital disorder of glycosylation with defective fucosylation

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	rs755169246	0.00016
NM_145059.3(FCSK):c.2068C>T (p.Gln690Ter)	rs375737602	0.00009
NM_145059.3(FCSK):c.2221C>T (p.Arg741Ter)	rs562205568	0.00002
NM_001371533.1(FUT8):c.12G>A (p.Trp4Ter)	rs1885915172
NM_001371533.1(FUT8):c.952C>T (p.Arg318Ter)	rs371242983
NM_145059.3(FCSK):c.1407-1G>C
NM_145059.3(FCSK):c.669_670del (p.Val225fs)

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