ClinVar Miner

List of variants reported as benign for COG6-ongenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.*80C>T rs4245396 0.40944
NM_020751.3(COG6):c.*1052A>G rs9943 0.35836
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_020751.3(COG6):c.1340T>C (p.Met447Thr) rs41286961 0.05379
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03077
NM_020751.3(COG6):c.*1093G>T rs114184435
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882

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