ClinVar Miner

List of variants reported as pathogenic for ALG12-congenital disorder of glycosylation by Daryl Scott Lab,Baylor College of Medicine

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Total variants: 3
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NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter) rs0
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722

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