ClinVar Miner

List of variants in gene DGKE reported as pathogenic for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_003647.3(DGKE):c.219C>G (p.Tyr73Ter)
NM_003647.3(DGKE):c.328G>T (p.Glu110Ter) rs915029037
NM_003647.3(DGKE):c.427C>T (p.Gln143Ter) rs1340500871
NM_003647.3(DGKE):c.541G>T (p.Glu181Ter)
NM_003647.3(DGKE):c.562_583del (p.Pro188fs)
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.888+1G>C rs1169050578
NM_003647.3(DGKE):c.943_944insT (p.Asp315fs)

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