ClinVar Miner

List of variants in gene DOCK8 reported as likely pathogenic for Combined immunodeficiency due to DOCK8 deficiency

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NC_000009.11:g.(?_271607)_(304724_?)dup
NC_000009.11:g.(?_271607)_(312186_?)dup
NC_000009.11:g.(?_271607)_(336738_?)dup
NC_000009.11:g.(?_271607)_(382705_?)dup
NC_000009.11:g.(?_271607)_(399279_?)dup
NC_000009.11:g.(?_271607)_(418227_?)dup
NC_000009.11:g.(?_325651)_(382705_?)dup
NC_000009.11:g.(?_332378)_(340341_?)dup
NC_000009.11:g.(?_334205)_(336738_?)del
NC_000009.11:g.(?_367998)_(418227_?)dup
NC_000009.11:g.(?_371408)_(428516_?)dup
NC_000009.11:g.(?_404898)_(407089_?)dup
NC_000009.12:g.(333421_334903)del
NC_000009.12:g.(?_304561)_(399279_?)dup
NC_000009.12:g.(?_334205)_(340341_?)dup
NM_203447.4(DOCK8):c.2007+2T>G rs2131215770
NM_203447.4(DOCK8):c.3530+1G>A rs1564025732
NM_203447.4(DOCK8):c.3670_3671insTCAAATTTTGG (p.Asp1224fs) rs2131602318
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
NM_203447.4(DOCK8):c.4626+1G>A
NM_203447.4(DOCK8):c.5311dup (p.Thr1771fs)
NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)
NM_203447.4(DOCK8):c.560_561insAGCGA (p.Asp187fs) rs2130697082
NM_203447.4(DOCK8):c.882dup (p.Glu295fs) rs1554668061

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