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

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Total variants: 12

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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.1955C>T (p.Ala652Val)	rs201433219	0.00011
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro)	rs769009456	0.00007
NM_145059.3(FCSK):c.379C>A (p.Leu127Met)	rs376941268	0.00005
NM_001371533.1(FUT8):c.222T>G (p.Ile74Met)	rs368415291	0.00004
NM_145059.3(FCSK):c.394G>C (p.Asp132His)	rs543223292	0.00004
NM_001371533.1(FUT8):c.1406C>T (p.Ser469Phe)	rs2139388052
NM_001371533.1(FUT8):c.1675C>T (p.Arg559Ter)	rs769250336
NM_001371533.1(FUT8):c.1691C>T (p.Thr564Met)
NM_145059.3(FCSK):c.1640G>A (p.Arg547Gln)	rs779832150
NM_145059.3(FCSK):c.1892A>G (p.Asn631Ser)
NM_145059.3(FCSK):c.2186A>G (p.Tyr729Cys)	rs1223202082

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