ClinVar Miner

List of variants studied for ALG6-congenital disorder of glycosylation 1C by Fulgent Genetics, Fulgent Genetics

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00007
NM_013339.4(ALG6):c.1128-13T>A rs773823994 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00004
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
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.681-5T>C rs778405436 0.00002
NM_013339.4(ALG6):c.1366A>G (p.Met456Val) rs1463890121 0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698 0.00001
NM_013339.4(ALG6):c.591A>G (p.Ile197Met) rs753024606 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_013339.4(ALG6):c.903-13A>G rs190744579 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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