ClinVar Miner

List of variants reported as benign for COG1 congenital disorder of glycosylation

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Total variants: 18
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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.1357G>C (p.Glu453Gln) rs62621249
NM_018714.3(COG1):c.1473C>T (p.Ser491=) rs1551036
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys) rs7208207
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221
NM_018714.3(COG1):c.2383-17T>C rs3829571
NM_018714.3(COG1):c.2620-10T>G rs144989249
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800
NM_018714.3(COG1):c.58G>C (p.Ala20Pro) rs142719529
NM_018714.3(COG1):c.775G>T (p.Val259Leu) rs139304974

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