ClinVar Miner

List of variants reported as uncertain significance for Combined immunodeficiency due to DOCK8 deficiency by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) rs139391329 0.00173
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln) rs149918318 0.00136
NM_203447.4(DOCK8):c.-58C>T rs144097790 0.00122
NM_203447.4(DOCK8):c.*1014T>C rs530493285 0.00119
NM_203447.4(DOCK8):c.1881T>C (p.Phe627=) rs140134223 0.00105
NM_203447.4(DOCK8):c.550G>A (p.Val184Met) rs143461644 0.00105
NM_203447.4(DOCK8):c.*99G>A rs554634853 0.00083
NM_203447.4(DOCK8):c.541C>G (p.His181Asp) rs200684000 0.00070
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00064
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_203447.4(DOCK8):c.5962-8C>T rs749575443 0.00061
NM_203447.4(DOCK8):c.2971-4G>A rs186097329 0.00057
NM_203447.4(DOCK8):c.5962-9T>C rs1324502895 0.00057
NM_203447.4(DOCK8):c.5155G>A (p.Ala1719Thr) rs144279637 0.00055
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_203447.4(DOCK8):c.5612A>G (p.Tyr1871Cys) rs140403518 0.00048
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_203447.4(DOCK8):c.3067A>G (p.Ile1023Val) rs140148619 0.00041
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln) rs147287319 0.00040
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys) rs200899164 0.00030
NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=) rs144299704 0.00027
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val) rs139990627 0.00026
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) rs148368084 0.00025
NM_203447.4(DOCK8):c.5818-13G>A rs368826292 0.00024
NM_203447.4(DOCK8):c.5892C>T (p.Asn1964=) rs138617736 0.00023
NM_203447.4(DOCK8):c.1979C>A (p.Ala660Asp) rs550289472 0.00021
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_203447.4(DOCK8):c.1683C>A (p.Asn561Lys) rs372278912 0.00019
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn) rs150298985 0.00019
NM_203447.4(DOCK8):c.4241+12G>A rs371073556 0.00019
NM_203447.4(DOCK8):c.626G>A (p.Arg209Gln) rs151262535 0.00017
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.5139C>T (p.Asp1713=) rs568641163 0.00014
NM_203447.4(DOCK8):c.53+10C>T rs763565243 0.00014
NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val) rs755658263 0.00011
NM_203447.4(DOCK8):c.2393A>G (p.Lys798Arg) rs140546511 0.00010
NM_203447.4(DOCK8):c.53+11C>T rs764626266 0.00010
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys) rs535305490 0.00009
NM_203447.4(DOCK8):c.5266A>C (p.Ile1756Leu) rs373154957 0.00009
NM_203447.4(DOCK8):c.6120G>A (p.Arg2040=) rs150524921 0.00009
NM_203447.4(DOCK8):c.2740G>A (p.Ala914Thr) rs375665207 0.00008
NM_203447.4(DOCK8):c.3543A>G (p.Val1181=) rs753242273 0.00008
NM_203447.4(DOCK8):c.4904A>G (p.Gln1635Arg) rs200869192 0.00007
NM_203447.4(DOCK8):c.1402G>A (p.Val468Ile) rs750286236 0.00006
NM_203447.4(DOCK8):c.1797+13A>C rs776147775 0.00006
NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys) rs267602235 0.00006
NM_203447.4(DOCK8):c.3713G>A (p.Arg1238His) rs767874435 0.00006
NM_203447.4(DOCK8):c.2087A>G (p.Asn696Ser) rs149521894 0.00005
NM_203447.4(DOCK8):c.5672G>A (p.Arg1891Gln) rs368477654 0.00005
NM_203447.4(DOCK8):c.*182T>C rs982509861 0.00004
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile) rs148994877 0.00004
NM_203447.4(DOCK8):c.1098G>A (p.Thr366=) rs139297216 0.00004
NM_203447.4(DOCK8):c.3414C>A (p.Phe1138Leu) rs781435688 0.00004
NM_203447.4(DOCK8):c.4024-6G>C rs555906969 0.00004
NM_203447.4(DOCK8):c.5595C>G (p.Ile1865Met) rs151208894 0.00004
NM_203447.4(DOCK8):c.686C>A (p.Ala229Asp) rs745614955 0.00004
NM_203447.4(DOCK8):c.*407C>T rs886063983 0.00003
NM_203447.4(DOCK8):c.*847A>G rs924532099 0.00003
NM_203447.4(DOCK8):c.1656A>G (p.Val552=) rs150595667 0.00003
NM_203447.4(DOCK8):c.1817G>A (p.Ser606Asn) rs778451048 0.00003
NM_203447.4(DOCK8):c.2438C>T (p.Thr813Ile) rs762799448 0.00003
NM_203447.4(DOCK8):c.2719G>A (p.Asp907Asn) rs756707690 0.00003
NM_203447.4(DOCK8):c.277G>T (p.Val93Leu) rs375686155 0.00003
NM_203447.4(DOCK8):c.2937C>G (p.Val979=) rs751748445 0.00003
NM_203447.4(DOCK8):c.3193C>T (p.Arg1065Trp) rs146891937 0.00003
NM_203447.4(DOCK8):c.*150A>T rs886063981 0.00002
NM_203447.4(DOCK8):c.*344A>G rs1409715154 0.00002
NM_203447.4(DOCK8):c.2593G>A (p.Val865Met) rs770643758 0.00002
NM_203447.4(DOCK8):c.2946T>C (p.Tyr982=) rs762327114 0.00002
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser) rs527474230 0.00002
NM_203447.4(DOCK8):c.3270T>C (p.Ile1090=) rs377297446 0.00002
NM_203447.4(DOCK8):c.4148C>G (p.Ala1383Gly) rs745583957 0.00002
NM_203447.4(DOCK8):c.5408A>C (p.Lys1803Thr) rs534744136 0.00002
NM_203447.4(DOCK8):c.578C>G (p.Pro193Arg) rs971992611 0.00002
NM_203447.4(DOCK8):c.*603T>C rs886063984 0.00001
NM_203447.4(DOCK8):c.-100T>A rs886063778 0.00001
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn) rs374938180 0.00001
NM_203447.4(DOCK8):c.156+7A>G rs991177118 0.00001
NM_203447.4(DOCK8):c.1649G>A (p.Arg550Gln) rs886063879 0.00001
NM_203447.4(DOCK8):c.1732T>G (p.Ser578Ala) rs764950936 0.00001
NM_203447.4(DOCK8):c.2713A>T (p.Asn905Tyr) rs1407788035 0.00001
NM_203447.4(DOCK8):c.34T>G (p.Phe12Val) rs886063779 0.00001
NM_203447.4(DOCK8):c.4252G>A (p.Glu1418Lys) rs764918764 0.00001
NM_203447.4(DOCK8):c.447A>G (p.Gly149=) rs763034264 0.00001
NM_203447.4(DOCK8):c.4497G>A (p.Glu1499=) rs886063957 0.00001
NM_203447.4(DOCK8):c.4785+8G>A rs759399965 0.00001
NM_203447.4(DOCK8):c.492G>C (p.Glu164Asp) rs772188486 0.00001
NM_203447.4(DOCK8):c.5221A>G (p.Thr1741Ala) rs943721536 0.00001
NM_203447.4(DOCK8):c.5288G>A (p.Arg1763Gln) rs751622919 0.00001
NM_203447.4(DOCK8):c.529-10T>C rs757276569 0.00001
NM_203447.4(DOCK8):c.5904T>A (p.Pro1968=) rs182402358 0.00001
NM_203447.4(DOCK8):c.828-15C>G rs773615177 0.00001
NM_203447.4(DOCK8):c.*1031G>A rs149002313
NM_203447.4(DOCK8):c.*195G>C rs184727169
NM_203447.4(DOCK8):c.*204C>A rs569685446
NM_203447.4(DOCK8):c.*366C>T rs886063982
NM_203447.4(DOCK8):c.*754T>C rs2057925428
NM_203447.4(DOCK8):c.*88C>G rs2057905960
NM_203447.4(DOCK8):c.*990T>C rs1057515587
NM_203447.4(DOCK8):c.-105G>T rs886063777
NM_203447.4(DOCK8):c.1044+13G>T rs754374567
NM_203447.4(DOCK8):c.1286G>A (p.Gly429Glu) rs776197556
NM_203447.4(DOCK8):c.1391C>A (p.Ser464Tyr) rs531279290
NM_203447.4(DOCK8):c.1619C>G (p.Pro540Arg) rs377334031
NM_203447.4(DOCK8):c.1782T>C (p.Ala594=) rs748721463
NM_203447.4(DOCK8):c.1970A>G (p.Lys657Arg) rs2053285384
NM_203447.4(DOCK8):c.2138A>G (p.Lys713Arg) rs2053510818
NM_203447.4(DOCK8):c.218A>G (p.Asn73Ser) rs886063849
NM_203447.4(DOCK8):c.2428G>A (p.Ala810Thr) rs752978895
NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr) rs141451302
NM_203447.4(DOCK8):c.2527G>A (p.Gly843Arg) rs886063934
NM_203447.4(DOCK8):c.2558A>G (p.His853Arg) rs2053670978
NM_203447.4(DOCK8):c.2605+14G>C rs886063935
NM_203447.4(DOCK8):c.2631T>G (p.Pro877=) rs2053764476
NM_203447.4(DOCK8):c.3195G>A (p.Arg1065=) rs781062154
NM_203447.4(DOCK8):c.3531-10G>C rs760907119
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu) rs566738926
NM_203447.4(DOCK8):c.3790G>T (p.Ala1264Ser) rs886063955
NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser) rs150057289
NM_203447.4(DOCK8):c.536C>T (p.Pro179Leu) rs772181121
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) rs775544616
NM_203447.4(DOCK8):c.5585A>G (p.Tyr1862Cys) rs752479766
NM_203447.4(DOCK8):c.5825T>C (p.Leu1942Ser) rs1245745138
NM_203447.4(DOCK8):c.5881G>C (p.Val1961Leu) rs2057374290
NM_203447.4(DOCK8):c.605G>T (p.Arg202Leu) rs374288188
NM_203447.4(DOCK8):c.6098G>T (p.Arg2033Leu) rs558033558
NM_203447.4(DOCK8):c.6186G>A (p.Glu2062=) rs2057877910
NM_203447.4(DOCK8):c.698A>T (p.Asn233Ile) rs576266303
NM_203447.4(DOCK8):c.701G>A (p.Arg234Lys) rs2050147330
NM_203447.4(DOCK8):c.72A>G (p.Ile24Met) rs531628086
NM_203447.4(DOCK8):c.760C>T (p.Arg254Cys) rs1227911560
NM_203447.4(DOCK8):c.841A>G (p.Ile281Val) rs1412000721
NM_203447.4(DOCK8):c.955C>T (p.His319Tyr) rs2050845211

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