ClinVar Miner

List of variants reported as pathogenic for COG5-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_006348.3(COG5):c.1252del (p.Arg418fs)
NM_006348.3(COG5):c.1508dup (p.Gly505fs) rs773281248
NM_006348.3(COG5):c.1669-15A>G rs1562937199
NM_006348.3(COG5):c.189delG rs1554464495
NM_006348.3(COG5):c.580C>T (p.Gln194Ter) rs1231928102

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