ClinVar Miner

List of variants in gene ALG9 reported as pathogenic for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
ALG9, GLU359LYS
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys) rs121908023
NM_024740.2(ALG9):c.[1173+2T>A];[1173+2T>A] rs786205134

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