List of variants in gene DOCK8 reported as likely pathogenic for B cell deficiency

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: 36

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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
NM_203447.4(DOCK8):c.1680-2A>G	rs749633690	0.00001
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.1868+1G>A
NM_203447.4(DOCK8):c.2007+2T>G	rs2131215770
NM_203447.4(DOCK8):c.2779-2A>C	rs776399238
NM_203447.4(DOCK8):c.3530+1G>A	rs1564025732
NM_203447.4(DOCK8):c.3670_3671insTCAAATTTTGG (p.Asp1224fs)	rs2131602318
NM_203447.4(DOCK8):c.3841-1G>T	rs1486452597
NM_203447.4(DOCK8):c.4024-2A>G
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
NM_203447.4(DOCK8):c.4626+1G>A
NM_203447.4(DOCK8):c.4626+76A>G
NM_203447.4(DOCK8):c.5223+1del	rs2131795370
NM_203447.4(DOCK8):c.53+1G>A	rs2046707580
NM_203447.4(DOCK8):c.5311dup (p.Thr1771fs)
NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)
NM_203447.4(DOCK8):c.5490+2T>C
NM_203447.4(DOCK8):c.560_561insAGCGA (p.Asp187fs)	rs2130697082
NM_203447.4(DOCK8):c.741+2T>C
NM_203447.4(DOCK8):c.882dup (p.Glu295fs)	rs1554668061

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