ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser) rs1560162116
NM_005787.6(ALG3):c.296+4A>G rs1560164682

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