ClinVar Miner

List of variants reported as pathogenic for congenital disorder of glycosylation type I by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter) rs563259198
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722

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