ClinVar Miner

List of variants in gene ALG11, UTP14C studied for ALG11-CDG

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP
NM_001004127.2(ALG11):c.1032T>G (p.Gly344=) rs143967675
NM_001004127.2(ALG11):c.1107T>C (p.Tyr369=) rs146432805
NM_001004127.2(ALG11):c.1142T>C (p.Leu381Ser) rs387907182
NM_001004127.2(ALG11):c.1192G>A (p.Glu398Lys) rs387907183

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