ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
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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 0.00003
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020751.3(COG6):c.1239dup (p.Phe414fs) rs1555277827
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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