ClinVar Miner

List of variants in gene ALG2 reported as likely benign for ALG2-CDG

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_033087.4(ALG2):c.1200T>C (p.Pro400=) rs764916897
NM_033087.4(ALG2):c.159C>T (p.His53=) rs527683080
NM_033087.4(ALG2):c.304C>T (p.Leu102=) rs749236548
NM_033087.4(ALG2):c.339G>A (p.Val113=) rs1554708016
NM_033087.4(ALG2):c.729A>T (p.Ala243=) rs748947069

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