List of variants studied for COG5-congenital disorder of glycosylation by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006348.5(COG5):c.1687G>T (p.Val563Phe)	rs773453129	0.00001
NM_006348.5(COG5):c.1984A>C (p.Thr662Pro)	rs751860643	0.00001
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu)	rs1135401817	0.00001
NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter)	rs1186766555
NM_006348.5(COG5):c.1576-15A>G	rs1562937199
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup)	rs751641438
NM_006348.5(COG5):c.237del (p.Val80fs)	rs1330009938
NM_006348.5(COG5):c.2425G>T (p.Glu809Ter)	rs1798520770
NM_006348.5(COG5):c.2T>G (p.Met1Arg)	rs375702393
NM_006348.5(COG5):c.463_467delinsCT (p.Ser155_Lys156delinsLeu)	rs1800843840
NM_006348.5(COG5):c.96del (p.Cys33Valfs)	rs1554464495

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