List of variants studied for COG5-congenital disorder of glycosylation by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006348.5(COG5):c.539-17G>A	rs150929025	0.01278
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)	rs150351852	0.00096
NM_006348.5(COG5):c.1756C>T (p.His586Tyr)	rs151129529	0.00086
NM_006348.5(COG5):c.59C>T (p.Ala20Val)	rs368239973	0.00002
NM_006348.5(COG5):c.858G>A (p.Met286Ile)	rs1325740175	0.00001
NM_006348.5(COG5):c.1078C>G (p.Leu360Val)	rs762031095
NM_006348.5(COG5):c.1750-3dup	rs746706902
NM_006348.5(COG5):c.2078C>T (p.Ala693Val)	rs751843896
NM_006348.5(COG5):c.2089C>G (p.Gln697Glu)	rs1031677638
NM_006348.5(COG5):c.2T>G (p.Met1Arg)	rs375702393
NM_006348.5(COG5):c.538+20del	rs201626701
NM_006348.5(COG5):c.538+6dup	rs201626701

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