ClinVar Miner

List of variants in gene ALG11 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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NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser) rs267606652
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) rs387907180
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) rs387907181
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) rs387907184

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