List of variants in gene DOCK8, LOC126860552 studied for Combined immunodeficiency due to DOCK8 deficiency

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr)	rs529208	0.47790
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn)	rs3209441	0.11431
NM_203447.4(DOCK8):c.223C>G (p.Leu75Val)	rs368133450	0.00023
NM_203447.4(DOCK8):c.314C>G (p.Pro105Arg)	rs201472678	0.00012
NM_203447.4(DOCK8):c.277G>T (p.Val93Leu)	rs375686155	0.00003
NM_203447.4(DOCK8):c.236T>C (p.Leu79Pro)	rs754852811	0.00001
NC_000009.12:g.(?_286441)_(289601_?)del
NC_000009.12:g.(?_286441)_(464239_?)del
NM_203447.4(DOCK8):c.196G>A (p.Gly66Arg)
NM_203447.4(DOCK8):c.218A>G (p.Asn73Ser)	rs886063849
NM_203447.4(DOCK8):c.240C>G (p.Ala80=)	rs1424086240
NM_203447.4(DOCK8):c.300T>C (p.Cys100=)
NM_203447.4(DOCK8):c.323C>T (p.Pro108Leu)

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