ClinVar Miner

List of variants studied for COG6-ongenital disorder of glycosylation by Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.1A>G (p.Met1Val) rs752232501
NM_020751.3(COG6):c.388C>T (p.Gln130Ter) rs1259563970

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