ClinVar Miner

List of variants reported as uncertain significance for Combined immunodeficiency due to DOCK8 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 228
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.685G>C (p.Ala229Pro) rs149234127 0.00060
NM_203447.4(DOCK8):c.656C>T (p.Ala219Val) rs144019007 0.00040
NM_203447.4(DOCK8):c.4850A>G (p.Gln1617Arg) rs140846364 0.00036
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val) rs139990627 0.00026
NM_203447.4(DOCK8):c.223C>G (p.Leu75Val) rs368133450 0.00023
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_203447.4(DOCK8):c.5296C>T (p.Arg1766Trp) rs201776049 0.00016
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) rs200201944 0.00015
NM_203447.4(DOCK8):c.763C>A (p.Pro255Thr) rs754843805 0.00014
NM_203447.4(DOCK8):c.1588G>A (p.Val530Met) rs373187839 0.00013
NM_203447.4(DOCK8):c.3337T>C (p.Phe1113Leu) rs779343060 0.00013
NM_203447.4(DOCK8):c.4003G>T (p.Val1335Leu) rs141863163 0.00013
NM_203447.4(DOCK8):c.314C>G (p.Pro105Arg) rs201472678 0.00012
NM_203447.4(DOCK8):c.4774T>C (p.Phe1592Leu) rs200152962 0.00012
NM_203447.4(DOCK8):c.973G>A (p.Ala325Thr) rs534080306 0.00012
NM_203447.4(DOCK8):c.3010C>T (p.Arg1004Trp) rs369178263 0.00011
NM_203447.4(DOCK8):c.3052G>A (p.Asp1018Asn) rs142910397 0.00011
NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val) rs755658263 0.00011
NM_203447.4(DOCK8):c.539G>A (p.Arg180His) rs369412510 0.00011
NM_203447.4(DOCK8):c.2393A>G (p.Lys798Arg) rs140546511 0.00010
NM_203447.4(DOCK8):c.2594T>C (p.Val865Ala) rs373018701 0.00010
NM_203447.4(DOCK8):c.476C>T (p.Pro159Leu) rs537605467 0.00010
NM_203447.4(DOCK8):c.5093A>G (p.Asn1698Ser) rs368538451 0.00010
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys) rs535305490 0.00009
NM_203447.4(DOCK8):c.4627-3C>T rs368566107 0.00009
NM_203447.4(DOCK8):c.1016C>T (p.Pro339Leu) rs145716710 0.00008
NM_203447.4(DOCK8):c.1619C>T (p.Pro540Leu) rs377334031 0.00007
NM_203447.4(DOCK8):c.1325C>T (p.Ser442Phe) rs745498345 0.00006
NM_203447.4(DOCK8):c.1402G>A (p.Val468Ile) rs750286236 0.00006
NM_203447.4(DOCK8):c.5645C>A (p.Thr1882Lys) rs376529318 0.00006
NM_203447.4(DOCK8):c.745G>A (p.Asp249Asn) rs202110964 0.00006
NM_203447.4(DOCK8):c.2087A>G (p.Asn696Ser) rs149521894 0.00005
NM_203447.4(DOCK8):c.4760T>C (p.Met1587Thr) rs749789023 0.00005
NM_203447.4(DOCK8):c.2303C>T (p.Ala768Val) rs140779178 0.00004
NM_203447.4(DOCK8):c.2731A>G (p.Thr911Ala) rs754915792 0.00004
NM_203447.4(DOCK8):c.3484C>T (p.Leu1162Phe) rs757455782 0.00004
NM_203447.4(DOCK8):c.3718T>G (p.Tyr1240Asp) rs536928333 0.00004
NM_203447.4(DOCK8):c.3785C>T (p.Ala1262Val) rs376233983 0.00004
NM_203447.4(DOCK8):c.5206G>A (p.Ala1736Thr) rs773022139 0.00004
NM_203447.4(DOCK8):c.5595C>G (p.Ile1865Met) rs151208894 0.00004
NM_203447.4(DOCK8):c.6068+6A>C rs760845840 0.00004
NM_203447.4(DOCK8):c.1475A>G (p.Lys492Arg) rs747740764 0.00003
NM_203447.4(DOCK8):c.1703A>G (p.Gln568Arg) rs551705105 0.00003
NM_203447.4(DOCK8):c.2707A>G (p.Ser903Gly) rs763459128 0.00003
NM_203447.4(DOCK8):c.3193C>T (p.Arg1065Trp) rs146891937 0.00003
NM_203447.4(DOCK8):c.3194G>T (p.Arg1065Leu) rs369239221 0.00003
NM_203447.4(DOCK8):c.3209A>G (p.Asn1070Ser) rs368569393 0.00003
NM_203447.4(DOCK8):c.4790A>T (p.Glu1597Val) rs373454848 0.00003
NM_203447.4(DOCK8):c.5002G>A (p.Ala1668Thr) rs759524696 0.00003
NM_203447.4(DOCK8):c.5117C>T (p.Ser1706Phe) rs144987765 0.00003
NM_203447.4(DOCK8):c.538C>T (p.Arg180Cys) rs141961156 0.00003
NM_203447.4(DOCK8):c.5729A>G (p.His1910Arg) rs1457365157 0.00003
NM_203447.4(DOCK8):c.6238A>G (p.Arg2080Gly) rs545187374 0.00003
NM_203447.4(DOCK8):c.623A>G (p.Lys208Arg) rs377430634 0.00003
NM_203447.4(DOCK8):c.893A>G (p.Lys298Arg) rs759089561 0.00003
NM_203447.4(DOCK8):c.1218A>G (p.Ile406Met) rs769027084 0.00002
NM_203447.4(DOCK8):c.2350C>T (p.Arg784Cys) rs1251716138 0.00002
NM_203447.4(DOCK8):c.2593G>A (p.Val865Met) rs770643758 0.00002
NM_203447.4(DOCK8):c.2648A>G (p.Tyr883Cys) rs780783415 0.00002
NM_203447.4(DOCK8):c.3251G>C (p.Ser1084Thr) rs758127991 0.00002
NM_203447.4(DOCK8):c.3381A>G (p.Ile1127Met) rs369322460 0.00002
NM_203447.4(DOCK8):c.3757G>A (p.Gly1253Ser) rs1395205685 0.00002
NM_203447.4(DOCK8):c.4004T>C (p.Val1335Ala) rs763029509 0.00002
NM_203447.4(DOCK8):c.4109G>A (p.Arg1370His) rs753480025 0.00002
NM_203447.4(DOCK8):c.4886+6C>T rs762986936 0.00002
NM_203447.4(DOCK8):c.4G>A (p.Ala2Thr) rs995474571 0.00002
NM_203447.4(DOCK8):c.578C>G (p.Pro193Arg) rs971992611 0.00002
NM_203447.4(DOCK8):c.6188G>A (p.Arg2063Gln) rs573916091 0.00002
NM_203447.4(DOCK8):c.6214A>G (p.Ile2072Val) rs148464417 0.00002
NM_203447.4(DOCK8):c.1175A>G (p.Gln392Arg) rs898931923 0.00001
NM_203447.4(DOCK8):c.1286-5T>A rs199940668 0.00001
NM_203447.4(DOCK8):c.1306C>T (p.Arg436Trp) rs775192218 0.00001
NM_203447.4(DOCK8):c.1327A>G (p.Arg443Gly) rs1282518477 0.00001
NM_203447.4(DOCK8):c.1376C>G (p.Ser459Cys) rs1208848727 0.00001
NM_203447.4(DOCK8):c.1387A>G (p.Thr463Ala) rs762538542 0.00001
NM_203447.4(DOCK8):c.1489T>G (p.Leu497Val) rs747023578 0.00001
NM_203447.4(DOCK8):c.1528C>A (p.Leu510Met) rs771479299 0.00001
NM_203447.4(DOCK8):c.156+7A>G rs991177118 0.00001
NM_203447.4(DOCK8):c.1580T>C (p.Met527Thr) rs772153077 0.00001
NM_203447.4(DOCK8):c.1615C>T (p.Arg539Cys) rs756969917 0.00001
NM_203447.4(DOCK8):c.1732T>G (p.Ser578Ala) rs764950936 0.00001
NM_203447.4(DOCK8):c.1762T>C (p.Phe588Leu) rs989941193 0.00001
NM_203447.4(DOCK8):c.1786A>G (p.Asn596Asp) rs1422205466 0.00001
NM_203447.4(DOCK8):c.1787A>G (p.Asn596Ser) rs367602254 0.00001
NM_203447.4(DOCK8):c.1868+4A>T rs181598195 0.00001
NM_203447.4(DOCK8):c.2060C>T (p.Pro687Leu) rs766820743 0.00001
NM_203447.4(DOCK8):c.2099A>G (p.His700Arg) rs746720608 0.00001
NM_203447.4(DOCK8):c.2111A>G (p.Lys704Arg) rs550143471 0.00001
NM_203447.4(DOCK8):c.236T>C (p.Leu79Pro) rs754852811 0.00001
NM_203447.4(DOCK8):c.2378A>T (p.His793Leu) rs1314604506 0.00001
NM_203447.4(DOCK8):c.2563G>A (p.Val855Ile) rs368921839 0.00001
NM_203447.4(DOCK8):c.2570G>A (p.Arg857His) rs754604696 0.00001
NM_203447.4(DOCK8):c.2654G>A (p.Arg885His) rs755881130 0.00001
NM_203447.4(DOCK8):c.2713A>T (p.Asn905Tyr) rs1407788035 0.00001
NM_203447.4(DOCK8):c.3011G>A (p.Arg1004Gln) rs778196359 0.00001
NM_203447.4(DOCK8):c.3100C>G (p.Leu1034Val) rs1463483371 0.00001
NM_203447.4(DOCK8):c.3148A>C (p.Ile1050Leu) rs759466659 0.00001
NM_203447.4(DOCK8):c.3589G>T (p.Asp1197Tyr) rs1030132063 0.00001
NM_203447.4(DOCK8):c.367C>G (p.Gln123Glu) rs1325722127 0.00001
NM_203447.4(DOCK8):c.3797A>G (p.Asn1266Ser) rs1266083328 0.00001
NM_203447.4(DOCK8):c.3844T>C (p.Tyr1282His) rs945093849 0.00001
NM_203447.4(DOCK8):c.3905G>C (p.Trp1302Ser) rs149116813 0.00001
NM_203447.4(DOCK8):c.4034G>C (p.Ser1345Thr) rs138869438 0.00001
NM_203447.4(DOCK8):c.4252G>A (p.Glu1418Lys) rs764918764 0.00001
NM_203447.4(DOCK8):c.4343G>A (p.Ser1448Asn) rs767499233 0.00001
NM_203447.4(DOCK8):c.4568G>A (p.Arg1523Gln) rs750380258 0.00001
NM_203447.4(DOCK8):c.4895A>G (p.Lys1632Arg) rs760713559 0.00001
NM_203447.4(DOCK8):c.4922G>A (p.Arg1641Gln) rs1564065424 0.00001
NM_203447.4(DOCK8):c.5158G>T (p.Gly1720Cys) rs1034358118 0.00001
NM_203447.4(DOCK8):c.5223G>A (p.Thr1741=) rs534712853 0.00001
NM_203447.4(DOCK8):c.5323C>G (p.Leu1775Val) rs1362434586 0.00001
NM_203447.4(DOCK8):c.566C>T (p.Ser189Phe) rs369919982 0.00001
NM_203447.4(DOCK8):c.5900C>T (p.Pro1967Leu) rs565777410 0.00001
NM_203447.4(DOCK8):c.6025C>T (p.His2009Tyr) rs534366023 0.00001
NM_203447.4(DOCK8):c.6167A>C (p.Asn2056Thr) rs1303324976 0.00001
NM_203447.4(DOCK8):c.664T>A (p.Phe222Ile) rs764089024 0.00001
NM_203447.4(DOCK8):c.688C>T (p.Arg230Trp) rs768146746 0.00001
NM_203447.4(DOCK8):c.803T>G (p.Ile268Arg) rs770040157 0.00001
NC_000009.11:g.(?_214957)_(215049_?)dup
NC_000009.11:g.(?_214957)_(271749_?)dup
NC_000009.11:g.(?_214957)_(286656_?)dup
NC_000009.11:g.(?_214957)_(289601_?)dup
NC_000009.11:g.(?_214957)_(340341_?)dup
NC_000009.11:g.(?_214957)_(407089_?)dup
NC_000009.11:g.(?_214957)_(422155_?)dup
NC_000009.11:g.(?_214957)_(452137_?)dup
NC_000009.11:g.(?_214957)_(464239_?)dup
NC_000009.11:g.(?_214977)_(215049_?)dup
NC_000009.11:g.(?_214977)_(286656_?)dup
NC_000009.11:g.(?_214977)_(304724_?)dup
NC_000009.11:g.(?_214977)_(317148_?)dup
NC_000009.11:g.(?_214977)_(328191_?)dup
NC_000009.11:g.(?_214977)_(334404_?)dup
NC_000009.11:g.(?_214977)_(340331_?)dup
NC_000009.11:g.(?_214977)_(372306_?)dup
NC_000009.11:g.(?_214977)_(399279_?)dup
NC_000009.11:g.(?_214977)_(452137_?)dup
NC_000009.11:g.(?_271607)_(340341_?)dup
NC_000009.11:g.(?_271607)_(464219_?)dup
NC_000009.11:g.(?_271607)_(464239_?)dup
NC_000009.11:g.(?_304561)_(317148_?)del
NC_000009.11:g.(?_304561)_(464219_?)dup
NC_000009.11:g.(?_304561)_(464239_?)dup
NC_000009.11:g.(?_311934)_(332498_?)del
NC_000009.11:g.(?_325651)_(464219_?)dup
NC_000009.11:g.(?_325651)_(464239_?)dup
NC_000009.11:g.(?_334205)_(464219_?)dup
NC_000009.11:g.(?_336562)_(464219_?)dup
NC_000009.11:g.(?_338986)_(464219_?)dup
NC_000009.11:g.(?_367998)_(464239_?)dup
NC_000009.11:g.(?_367998)_(713484_?)dup
NC_000009.11:g.(?_396765)_(464219_?)dup
NC_000009.11:g.(?_404898)_(464219_?)dup
NC_000009.11:g.(?_463497)_(464219_?)dup
NC_000009.11:g.(?_463497)_(745235_?)dup
NC_000009.12:g.(?_213865)_(466259_?)dup
NC_000009.12:g.(?_214957)_(304724_?)dup
NC_000009.12:g.(?_214957)_(317148_?)dup
NC_000009.12:g.(?_214957)_(332498_?)dup
NC_000009.12:g.(?_214957)_(396954_?)dup
NC_000009.12:g.(?_214957)_(399279_?)dup
NC_000009.12:g.(?_336562)_(464239_?)dup
NC_000009.12:g.(?_368008)_(464219_?)dup
NC_000009.12:g.(?_426865)_(464239_?)dup
NC_000009.12:g.(?_446350)_(464239_?)dup
NM_203447.4(DOCK8):c.1115A>G (p.Asp372Gly)
NM_203447.4(DOCK8):c.1139T>C (p.Ile380Thr)
NM_203447.4(DOCK8):c.1139T>G (p.Ile380Ser) rs577932942
NM_203447.4(DOCK8):c.1152A>T (p.Lys384Asn) rs780052020
NM_203447.4(DOCK8):c.1237_1238delinsGG (p.Asn413Gly) rs2051203389
NM_203447.4(DOCK8):c.1238A>T (p.Asn413Ile) rs10970979
NM_203447.4(DOCK8):c.1273G>C (p.Asp425His) rs2051205176
NM_203447.4(DOCK8):c.1432C>T (p.Arg478Cys)
NM_203447.4(DOCK8):c.14C>G (p.Pro5Arg)
NM_203447.4(DOCK8):c.1526G>A (p.Arg509Lys) rs2051509736
NM_203447.4(DOCK8):c.1609C>G (p.Arg537Gly) rs544513633
NM_203447.4(DOCK8):c.1778A>T (p.Asp593Val) rs1282328578
NM_203447.4(DOCK8):c.1840G>C (p.Val614Leu) rs772385663
NM_203447.4(DOCK8):c.1844A>G (p.Tyr615Cys)
NM_203447.4(DOCK8):c.196G>A (p.Gly66Arg)
NM_203447.4(DOCK8):c.2007+5G>A rs2053286759
NM_203447.4(DOCK8):c.2017A>G (p.Ile673Val) rs372858877
NM_203447.4(DOCK8):c.2428G>A (p.Ala810Thr) rs752978895
NM_203447.4(DOCK8):c.2444A>G (p.Asn815Ser) rs141451302
NM_203447.4(DOCK8):c.2554G>A (p.Val852Met) rs199771908
NM_203447.4(DOCK8):c.2633G>A (p.Arg878Gln) rs2131298047
NM_203447.4(DOCK8):c.2710A>G (p.Ser904Gly) rs1156460723
NM_203447.4(DOCK8):c.2751G>T (p.Glu917Asp) rs767011914
NM_203447.4(DOCK8):c.2785G>A (p.Asp929Asn) rs751395001
NM_203447.4(DOCK8):c.2882A>T (p.His961Leu) rs1554688666
NM_203447.4(DOCK8):c.3003G>A (p.Met1001Ile)
NM_203447.4(DOCK8):c.3134C>G (p.Ala1045Gly) rs755658263
NM_203447.4(DOCK8):c.3194G>A (p.Arg1065Gln) rs369239221
NM_203447.4(DOCK8):c.323C>T (p.Pro108Leu)
NM_203447.4(DOCK8):c.3323A>C (p.Asn1108Thr)
NM_203447.4(DOCK8):c.3340A>G (p.Met1114Val)
NM_203447.4(DOCK8):c.3509C>T (p.Ala1170Val) rs1239324162
NM_203447.4(DOCK8):c.3692A>G (p.Asp1231Gly) rs2131602458
NM_203447.4(DOCK8):c.379C>T (p.Arg127Cys)
NM_203447.4(DOCK8):c.3867C>G (p.Asn1289Lys) rs146984705
NM_203447.4(DOCK8):c.3965C>T (p.Thr1322Met) rs774043738
NM_203447.4(DOCK8):c.398A>G (p.Asn133Ser)
NM_203447.4(DOCK8):c.4041C>A (p.Asp1347Glu) rs776482748
NM_203447.4(DOCK8):c.4051A>G (p.Thr1351Ala) rs2056251791
NM_203447.4(DOCK8):c.415A>G (p.Ser139Gly) rs377658939
NM_203447.4(DOCK8):c.431_432delinsTT (p.Gly144Val) rs1057518550
NM_203447.4(DOCK8):c.4528C>G (p.Gln1510Glu) rs762051692
NM_203447.4(DOCK8):c.4573C>G (p.Gln1525Glu) rs2056642801
NM_203447.4(DOCK8):c.4736C>T (p.Ala1579Val) rs145202369
NM_203447.4(DOCK8):c.4945G>A (p.Ala1649Thr) rs764627735
NM_203447.4(DOCK8):c.4946C>T (p.Ala1649Val) rs752085039
NM_203447.4(DOCK8):c.5059G>T (p.Val1687Leu) rs767895149
NM_203447.4(DOCK8):c.5116T>G (p.Ser1706Ala)
NM_203447.4(DOCK8):c.5207C>G (p.Ala1736Gly) rs139990627
NM_203447.4(DOCK8):c.5232A>T (p.Leu1744Phe) rs748798340
NM_203447.4(DOCK8):c.5711G>C (p.Arg1904Pro)
NM_203447.4(DOCK8):c.5812G>A (p.Glu1938Lys)
NM_203447.4(DOCK8):c.5845A>G (p.Ile1949Val) rs1324228204
NM_203447.4(DOCK8):c.590G>A (p.Cys197Tyr) rs777075220
NM_203447.4(DOCK8):c.6110C>T (p.Ala2037Val) rs2057873747
NM_203447.4(DOCK8):c.6134A>C (p.Glu2045Ala)
NM_203447.4(DOCK8):c.6202C>G (p.Leu2068Val)
NM_203447.4(DOCK8):c.701G>A (p.Arg234Lys) rs2050147330
NM_203447.4(DOCK8):c.84T>G (p.Phe28Leu) rs2048168645
NM_203447.4(DOCK8):c.860G>T (p.Ser287Ile) rs2050737085
NM_203447.4(DOCK8):c.874G>T (p.Asp292Tyr) rs563721489
NM_203447.4(DOCK8):c.971C>A (p.Ala324Asp) rs752571540
NM_203447.4(DOCK8):c.992C>A (p.Ser331Tyr) rs755958778

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.