ClinVar Miner

List of variants in gene combination ALG11, UTP14C reported as pathogenic for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser) rs387907182
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys) rs387907183
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg) rs1064795803

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