ClinVar Miner

List of variants reported as likely benign for COG1 congenital disorder of glycosylation by Illumina Clinical Services Laboratory,Illumina

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Total variants: 6
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HGVS dbSNP
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829
NM_018714.3(COG1):c.2620-10T>G rs144989249
NM_018714.3(COG1):c.2806-13C>T rs141573449
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.58G>C (p.Ala20Pro) rs142719529

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