ClinVar Miner

List of variants reported as likely pathogenic for ALG12-CDG by Medical Genetics Laboratory,Bambino Gesù Children's Hospital

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro) rs775856400
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118

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