ClinVar Miner

List of variants in gene COG8, PDF studied for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032382.5(COG8):c.*330G>T rs1055399 0.05747
NM_032382.5(COG8):c.*332A>T rs1055401 0.05746
NM_032382.5(COG8):c.*402A>G rs547836079 0.00005
NM_032382.5(COG8):c.*492C>T rs886052249 0.00001
NM_032382.5(COG8):c.*506C>T rs886052248 0.00001
NM_032382.5(COG8):c.*568G>T rs143819789 0.00001
NM_032382.5(COG8):c.*73G>A rs1215066535 0.00001
NM_032382.5(COG8):c.*26+543C>T rs2011689121

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