ClinVar Miner

List of variants in gene COG6 reported as likely pathogenic for COG6-ongenital disorder of glycosylation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00003
NM_020751.3(COG6):c.1585-2A>G rs200812708 0.00001
NM_020751.3(COG6):c.154-2A>G rs1593402927
NM_020751.3(COG6):c.540G>A (p.Glu180=) rs1593418085

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