ClinVar Miner

List of variants reported as likely benign for COG6-ongenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_020751.3(COG6):c.358A>G (p.Ser120Gly) rs139313781 0.00280
NM_020751.3(COG6):c.-53T>G rs534007509 0.00046
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_020751.3(COG6):c.*889T>A rs374465943

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