ClinVar Miner

List of variants in gene ALG1 reported as uncertain significance 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: 7
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HGVS dbSNP
NM_001330504.1(ALG1):c.271G>T (p.Asp91Tyr)
NM_001330504.1(ALG1):c.433G>A (p.Glu145Lys)
NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) rs201975029
NM_001330504.1(ALG1):c.547A>C (p.Ile183Leu)
NM_001330504.1(ALG1):c.803T>G (p.Val268Gly) rs1555452573
NM_019109.4(ALG1):c.142C>T (p.Arg48Cys) rs1051082443
NM_019109.4(ALG1):c.434G>A (p.Gly145Asp) rs387906926

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