ClinVar Miner

List of variants in gene DGKE reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003647.3(DGKE):c.59G>A (p.Gly20Glu) rs73994915 0.01411
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu) rs146866423 0.00481
NM_003647.3(DGKE):c.798T>A (p.Leu266=) rs61751970 0.00312
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del)
NM_003647.3(DGKE):c.1347C>T (p.Ile449=)
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.999G>A (p.Ala333=)

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