ClinVar Miner

List of variants in gene DOCK8 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 29
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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
GRCh37/hg19 9p24.3(chr9:203861-378086)x1
GRCh37/hg19 9p24.3(chr9:266045-434797)x1
NC_000009.11:g.(?_271607)_(332498_?)dup
NC_000009.11:g.(?_271607)_(399279_?)dup
NC_000009.11:g.(?_271607)_(414971_?)dup
NC_000009.11:g.(?_271607)_(434995_?)dup
NC_000009.11:g.(?_304561)_(382705_?)dup
NC_000009.11:g.(?_325651)_(325757_?)dup
NC_000009.11:g.(?_382493)_(399279_?)dup
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) rs1057518028
NM_203447.4(DOCK8):c.1797+61A>C rs786205596
NM_203447.4(DOCK8):c.1868+1G>A
NM_203447.4(DOCK8):c.2083_2109+62del
NM_203447.4(DOCK8):c.2606-5_2606del
NM_203447.4(DOCK8):c.2779-2A>C rs776399238
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs) rs748134881
NM_203447.4(DOCK8):c.3841-1G>T rs1486452597
NM_203447.4(DOCK8):c.4024-2A>G
NM_203447.4(DOCK8):c.4129del (p.Glu1377fs) rs1554701472
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.5490+2T>C
NM_203447.4(DOCK8):c.741+2T>C
NM_203447.4(DOCK8):c.742-1G>A
NM_203447.4(DOCK8):c.882dup (p.Glu295fs) rs1554668061

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