ClinVar Miner

List of variants studied for ALG3-congenital disorder of glycosylation by Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) rs367679074 0.00001
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro) rs370434427 0.00001
NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter) rs1560161567
NM_005787.6(ALG3):c.163_196+3del rs1560166870

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