ClinVar Miner

List of variants in gene COG1 reported as uncertain significance for COG1-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala)
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs) rs1568298983
NM_018714.3(COG1):c.2791G>A (p.Glu931Lys) rs774479733
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter) rs774479733
NM_018714.3(COG1):c.85G>A (p.Glu29Lys) rs1032371996
NM_018714.3(COG1):c.988G>A (p.Glu330Lys)

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