List of variants in gene COG6 reported as pathogenic for disorder of multiple glycosylation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)	rs200177031	0.00004
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)	rs1292534396	0.00001
NM_020751.3(COG6):c.1167-24A>G	rs730882236
NM_020751.3(COG6):c.1239dup (p.Phe414fs)	rs1555277827
NM_020751.3(COG6):c.153+392A>G
NM_020751.3(COG6):c.1646G>T (p.Gly549Val)	rs387906959
NM_020751.3(COG6):c.1672C>T (p.Gln558Ter)
NM_020751.3(COG6):c.1746+2T>G	rs1555280464
NM_020751.3(COG6):c.1884T>G (p.Tyr628Ter)
NM_020751.3(COG6):c.1A>G (p.Met1Val)	rs752232501
NM_020751.3(COG6):c.252del (p.Ala85fs)	rs2137942150
NM_020751.3(COG6):c.388C>T (p.Gln130Ter)	rs1259563970
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_020751.3(COG6):c.726del (p.Cys242fs)	rs1593421620
NM_020751.3(COG6):c.785A>G (p.Tyr262Cys)	rs756826030

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