ClinVar Miner

List of variants reported as pathogenic for ALG3-CDG by Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine

Included ClinVar conditions (1):

Congenital disorder of glycosylation type 1D

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Total variants: 4

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HGVS	dbSNP
NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter)	rs1560161567
NM_005787.6(ALG3):c.163_196+3del	rs1560166870
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)	rs367679074
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)	rs370434427

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