ClinVar Miner

List of variants reported as uncertain significance for COG5-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_006348.3(COG5):c.1056A>G (p.Gln352=) rs375846157
NM_006348.3(COG5):c.1130C>T (p.Pro377Leu) rs143773937
NM_006348.3(COG5):c.1849C>T (p.His617Tyr) rs151129529
NM_006348.3(COG5):c.2440T>C (p.Ser814Pro)
NM_006348.3(COG5):c.391C>T (p.Leu131Phe) rs150351852
NM_006348.3(COG5):c.407C>T (p.Thr136Met) rs755030238
NM_006348.3(COG5):c.644A>G (p.Gln215Arg)

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