ClinVar Miner

List of variants in gene DGKE reported as uncertain significance for familial nephrotic syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003647.3(DGKE):c.303G>C (p.Lys101Asn) rs201209316 0.00030
NM_003647.3(DGKE):c.713G>A (p.Gly238Glu) rs201154049 0.00015
NM_003647.3(DGKE):c.1688T>C (p.Ile563Thr) rs767939518 0.00003
NM_003647.3(DGKE):c.1295A>T (p.Asp432Val)
NM_003647.3(DGKE):c.156G>C (p.Arg52Ser)
NM_003647.3(DGKE):c.233C>G (p.Ala78Gly) rs775804689
NM_003647.3(DGKE):c.293G>A (p.Cys98Tyr) rs1906511276
NM_003647.3(DGKE):c.322T>A (p.Cys108Ser)
NM_003647.3(DGKE):c.379T>A (p.Trp127Arg)
NM_003647.3(DGKE):c.464G>A (p.Arg155Lys)
NM_003647.3(DGKE):c.531T>G (p.Cys177Trp)
NM_003647.3(DGKE):c.626T>C (p.Leu209Pro)
NM_003647.3(DGKE):c.995T>C (p.Val332Ala) rs1907467218

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