ClinVar Miner

List of variants in gene DGKE reported by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003647.3(DGKE):c.1009C>T (p.Arg337Ter) rs762576212 0.00001
NM_003647.3(DGKE):c.1099-2A>T rs1598043201
NM_003647.3(DGKE):c.1169G>A (p.Arg390His) rs1060499709
NM_003647.3(DGKE):c.1376G>A (p.Trp459Ter) rs1060499708
NM_003647.3(DGKE):c.1442dup (p.Val482fs) rs1567825026
NM_003647.3(DGKE):c.178C>G (p.His60Asp) rs1482608926
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030

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