ClinVar Miner

List of variants reported as uncertain significance for COG6-ongenital disorder of glycosylation by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.320A>T (p.Asp107Val) rs146229425 0.00196
NM_020751.3(COG6):c.1645G>T (p.Gly549Cys) rs141114931 0.00078
NM_020751.3(COG6):c.783A>T (p.Leu261Phe) rs199694513 0.00002
NM_020751.3(COG6):c.95G>T (p.Cys32Phe) rs576575818 0.00002
NM_020751.3(COG6):c.299A>T (p.Glu100Val) rs866336771
NM_020751.3(COG6):c.784T>C (p.Tyr262His) rs1876359351

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