List of variants in gene DGKE studied for complement deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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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.1000C>T (p.Gln334Ter)	rs312262697
NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del)
NM_003647.3(DGKE):c.1A>T (p.Met1Leu)	rs1906465563
NM_003647.3(DGKE):c.301A>T (p.Lys101Ter)	rs777787526
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter)	rs148605410
NM_003647.3(DGKE):c.447del (p.Lys150fs)	rs1906529223
NM_003647.3(DGKE):c.472dup (p.Trp158fs)	rs312262698
NM_003647.3(DGKE):c.486dup (p.Val163fs)	rs312262699
NM_003647.3(DGKE):c.610dup (p.Thr204fs)	rs147972030
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro)	rs312262695
NM_003647.3(DGKE):c.889-1G>A	rs312262696
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys)	rs749415630
NM_003647.3(DGKE):c.999G>A (p.Ala333=)

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