ClinVar Miner

List of variants reported as pathogenic for ALG3-congenital disorder of glycosylation by Labcorp Genetics (formerly Invitae), Labcorp

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_005787.6(ALG3):c.1061G>A (p.Arg354His)	rs546890576	0.00002
NM_005787.6(ALG3):c.165C>T (p.Gly55=)	rs387906273	0.00001
NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)

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