List of variants in gene DOCK8, LOC130001437 studied for Combined immunodeficiency due to DOCK8 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_203447.4(DOCK8):c.4G>A (p.Ala2Thr)	rs995474571	0.00002
NM_203447.4(DOCK8):c.34T>G (p.Phe12Val)	rs886063779	0.00001
NC_000009.11:g.(?_214957)_(215049_?)dup
NC_000009.12:g.(?_214957)_(215049_?)del
NM_203447.4(DOCK8):c.14C>G (p.Pro5Arg)
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu)	rs566738926

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