ClinVar Miner

List of variants reported as pathogenic for ALG3-congenital disorder of glycosylation by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (1):

ALG3-congenital disorder of glycosylation

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)	rs370434427	0.00001
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)	rs1023520147	0.00001

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