ClinVar Miner

List of variants reported as benign for COG1 congenital disorder of glycosylation by Nilou-Genome Lab

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Total variants: 7
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HGVS dbSNP
NM_018714.2(COG1):c.-27A>G rs3764359
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) rs1026128
NM_018714.3(COG1):c.1282-48T>C
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_018714.3(COG1):c.2383-17T>C rs3829571
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800

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