List of variants in gene COG6 reported as pathogenic for hereditary skin disorder

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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: 5

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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.252del (p.Ala85fs)	rs2137942150
NM_020751.3(COG6):c.651_654del (p.Leu217fs)

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