List of variants in gene COG6 reported as likely 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)	rs1292534396	0.00001
NM_020751.3(COG6):c.1585-2A>G	rs200812708	0.00001
NM_020751.3(COG6):c.154-2A>G	rs1593402927
NM_020751.3(COG6):c.1826+2T>C
NM_020751.3(COG6):c.298-1G>A
NM_020751.3(COG6):c.540G>A (p.Glu180=)	rs1593418085
NM_020751.3(COG6):c.548dup (p.Lys184fs)	rs781236436

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