ClinVar Miner

List of variants in gene DGKE studied for anemia (disease)

Included ClinVar conditions (258):
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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_003647.2(DGKE):c.1000C>T (p.Gln334Ter) rs312262697
NM_003647.2(DGKE):c.1009C>T (p.Arg337Ter) rs762576212
NM_003647.2(DGKE):c.1169G>A (p.Arg390His) rs1060499709
NM_003647.2(DGKE):c.127C>T (p.Gln43Ter) rs398123008
NM_003647.2(DGKE):c.1376G>A (p.Trp459Ter) rs1060499708
NM_003647.2(DGKE):c.178C>G (p.His60Asp) rs1482608926
NM_003647.2(DGKE):c.188G>C (p.Arg63Pro) rs312262694
NM_003647.2(DGKE):c.301A>T (p.Lys101Ter) rs777787526
NM_003647.2(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.2(DGKE):c.472_473insT (p.Trp158Leufs) rs312262698
NM_003647.2(DGKE):c.486dupA (p.Val163Serfs) rs312262699
NM_003647.2(DGKE):c.610del (p.Thr204Glnfs) rs147972030
NM_003647.2(DGKE):c.728_731delTGTT (p.Leu243Terfs) rs1064797074
NM_003647.2(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.2(DGKE):c.888+40A>G rs1555599211
NM_003647.2(DGKE):c.889-1G>A rs312262696
NM_003647.2(DGKE):c.889-2A>G rs879255231
NM_003647.3(DGKE):c.1442dup (p.Val482Serfs)
NM_003647.3(DGKE):c.610dup (p.Thr204Asnfs)
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661

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