ClinVar Miner

List of variants in gene DOCK8 reported as benign for combined immunodeficiency due to DOCK8 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=) rs7854035 0.99726
NM_203447.4(DOCK8):c.2605+30T>C rs10758420 0.93542
NM_203447.4(DOCK8):c.5961+133A>G rs10121936 0.83292
NM_203447.4(DOCK8):c.*701G>A rs3780338 0.81268
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_203447.4(DOCK8):c.5356-48C>T rs10974467 0.71940
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_203447.4(DOCK8):c.4627-85T>C rs1329377 0.68824
NM_203447.4(DOCK8):c.894+74_894+75insC rs3831138 0.67848
NM_203447.4(DOCK8):c.895-16T>C rs2296828 0.66765
NM_203447.4(DOCK8):c.895-84G>C rs2296825 0.63039
NM_203447.4(DOCK8):c.4241+22T>C rs10217719 0.57971
NM_203447.4(DOCK8):c.5223+65G>C rs10758598 0.57714
NM_203447.4(DOCK8):c.2206-48A>G rs7020921 0.53910
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_203447.4(DOCK8):c.4154-68T>A rs2297081 0.43281
NM_203447.4(DOCK8):c.895-65T>G rs2296826 0.36072
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) rs10814431 0.24804
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) rs913703 0.23408
NM_203447.4(DOCK8):c.1423-100G>A rs12340920 0.21365
NM_203447.4(DOCK8):c.1692T>C (p.Tyr564=) rs10972587 0.13521
NM_203447.4(DOCK8):c.6068+32G>C rs16909246 0.12477
NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=) rs10491684 0.09400
NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val) rs17673268 0.07826
NM_203447.4(DOCK8):c.*112T>C rs10974618 0.07359
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_203447.4(DOCK8):c.3208A>G (p.Asn1070Asp) rs73382631 0.03284
NM_203447.4(DOCK8):c.2295C>T (p.Ser765=) rs12348944 0.03237
NM_203447.4(DOCK8):c.5818-14C>T rs10124592 0.02927
NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=) rs7034926 0.02921
NM_203447.4(DOCK8):c.*743C>T rs117155264 0.02684
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_203447.4(DOCK8):c.528+13A>G rs116483820 0.01176
NM_203447.4(DOCK8):c.2739C>T (p.Ser913=) rs116523732 0.01126
NM_203447.4(DOCK8):c.5001C>T (p.His1667=) rs35662752 0.01091
NM_203447.4(DOCK8):c.*867C>T rs12067 0.01074
NM_203447.4(DOCK8):c.3441C>T (p.Phe1147=) rs34621129 0.01036
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=) rs34098809 0.00985
NM_203447.4(DOCK8):c.*757T>G rs116697485 0.00922
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_203447.4(DOCK8):c.2971-14A>G rs140114637 0.00841
NM_203447.4(DOCK8):c.*845T>C rs10157 0.00683
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=) rs117610764 0.00615
NM_203447.4(DOCK8):c.5154C>T (p.Cys1718=) rs140431229 0.00514
NM_203447.4(DOCK8):c.5187A>G (p.Val1729=) rs111535933 0.00493
NM_203447.4(DOCK8):c.*258T>C rs145094924 0.00421
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp) rs16937932 0.00387
NM_203447.4(DOCK8):c.1587C>G (p.Pro529=) rs146289269 0.00296
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys) rs76276364 0.00068
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.5080-143G>C rs10733508
NM_203447.4(DOCK8):c.5223+79A>C rs10217568
NM_203447.4(DOCK8):c.5490+21C>T rs1887958
NM_203447.4(DOCK8):c.5581-18G>C rs10814952
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045

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