ClinVar Miner

List of variants in gene DGKE reported as pathogenic for Nephrotic syndrome, type 7

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Total variants: 9
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NM_003647.3(DGKE):c.1009C>T (p.Arg337Ter) rs762576212
NM_003647.3(DGKE):c.1099-2A>T rs1598043201
NM_003647.3(DGKE):c.127C>T (p.Gln43Ter) rs398123008
NM_003647.3(DGKE):c.1376G>A (p.Trp459Ter) rs1060499708
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_003647.3(DGKE):c.889-2A>G rs879255231
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661

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