ClinVar Miner

List of variants studied for COG5-CDG by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_006348.3(COG5):c.1508dup (p.Gly505Trpfs) rs773281248
NM_006348.3(COG5):c.2324C>T (p.Pro775Leu) rs1135401817

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