ClinVar Miner

List of variants in gene combination ALG11, UTP14C reported as benign for ALG11-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_021645.6(UTP14C):c.254G>T (p.Gly85Val) rs3742289 0.63014
NM_021645.6(UTP14C):c.835C>T (p.Leu279=) rs3742291 0.56764
NM_021645.6(UTP14C):c.-22A>C rs3825528 0.40130
NM_021645.6(UTP14C):c.301A>G (p.Thr101Ala) rs3742290 0.10387
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675 0.00348
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805 0.00031

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