ClinVar Miner

List of variants reported as likely pathogenic for ALG1-congenital disorder of glycosylation by Undiagnosed Diseases Network, NIH

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_019109.5(ALG1):c.1187+3A>G	rs369160589	0.00013
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)	rs1009298200
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)	rs1555452127

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