List of variants reported as likely pathogenic for ALG6-congenital disorder of glycosylation 1C by Fulgent Genetics, Fulgent Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_013339.4(ALG6):c.338G>A (p.Arg113His)	rs768372697	0.00006
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)	rs774242915	0.00002
NM_013339.4(ALG6):c.337C>T (p.Arg113Cys)	rs754672490	0.00002
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)	rs372079206	0.00001
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)	rs1644562014
NM_013339.4(ALG6):c.100_101del (p.Met34fs)	rs1648830820
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)	rs1207096732
NM_013339.4(ALG6):c.131G>A (p.Trp44Ter)
NM_013339.4(ALG6):c.262A>T (p.Lys88Ter)
NM_013339.4(ALG6):c.408del (p.Glu137fs)
NM_013339.4(ALG6):c.492dup (p.Gln165fs)	rs1644493041
NM_013339.4(ALG6):c.506dup (p.Ser170fs)
NM_013339.4(ALG6):c.634dup (p.Cys212fs)	rs879133727
NM_013339.4(ALG6):c.737_738delinsC (p.Trp246fs)
NM_013339.4(ALG6):c.789_790del (p.Phe264fs)	rs767943869
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)	rs387906338
NM_013339.4(ALG6):c.91A>T (p.Lys31Ter)

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