ClinVar Miner

List of variants reported as pathogenic for ALG9-CDG

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs)
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426
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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