ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
Download table as spreadsheet
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.289C>A (p.Pro97Thr) rs529208 0.47790
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.187G>A (p.Asp63Asn) rs3209441 0.11431
NM_203447.4(DOCK8):c.-69T>C rs62533313 0.09752
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.