ClinVar Miner

List of variants in gene DGKE reported as pathogenic for atypical hemolytic-uremic syndrome

Included ClinVar conditions (17):

Afibrinogenemia; Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13
Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency
Atypical hemolytic-uremic syndrome
Atypical hemolytic-uremic syndrome with B factor anomaly
Atypical hemolytic-uremic syndrome with B factor anomaly; Age related macular degeneration 14; Complement factor b deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with DGKE deficiency
Atypical hemolytic-uremic syndrome with I factor anomaly
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4
Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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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.301A>T (p.Lys101Ter)	rs777787526
NM_003647.3(DGKE):c.447del (p.Lys150fs)	rs1906529223
NM_003647.3(DGKE):c.610dup (p.Thr204fs)	rs147972030

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