ClinVar Miner

List of variants in gene DOCK8 reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4724G>A (p.Arg1575Lys) rs141252560 0.00121
NM_203447.4(DOCK8):c.986C>T (p.Ala329Val) rs75352090 0.00056
NM_203447.4(DOCK8):c.3067A>G (p.Ile1023Val) rs140148619 0.00041
NM_203447.4(DOCK8):c.656C>T (p.Ala219Val) rs144019007 0.00036
NM_203447.4(DOCK8):c.4736C>G (p.Ala1579Gly) rs145202369 0.00031
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val) rs139990627 0.00024
NM_203447.4(DOCK8):c.6221G>C (p.Arg2074Thr) rs375011475 0.00023
NM_203447.4(DOCK8):c.3216C>G (p.Ile1072Met) rs370250940 0.00019
NM_203447.4(DOCK8):c.5602G>C (p.Val1868Leu) rs375218876 0.00019
NM_203447.4(DOCK8):c.3721C>T (p.Arg1241Cys) rs556936872 0.00013
NM_203447.4(DOCK8):c.3754G>C (p.Ala1252Pro) rs142495501 0.00013
NM_203447.4(DOCK8):c.4003G>T (p.Val1335Leu) rs141863163 0.00013
NM_203447.4(DOCK8):c.2272C>T (p.Arg758Cys) rs749523267 0.00011
NM_203447.4(DOCK8):c.3052G>A (p.Asp1018Asn) rs142910397 0.00011
NM_203447.4(DOCK8):c.2393A>G (p.Lys798Arg) rs140546511 0.00010
NM_203447.4(DOCK8):c.3712C>T (p.Arg1238Cys) rs764380170 0.00010
NM_203447.4(DOCK8):c.5266A>C (p.Ile1756Leu) rs373154957 0.00008
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu) rs369449324 0.00007
NM_203447.4(DOCK8):c.605G>A (p.Arg202His) rs374288188 0.00007
NM_203447.4(DOCK8):c.1325C>T (p.Ser442Phe) rs745498345 0.00006
NM_203447.4(DOCK8):c.5645C>A (p.Thr1882Lys) rs376529318 0.00006
NM_203447.4(DOCK8):c.6107C>T (p.Thr2036Met) rs767198480 0.00006
NM_203447.4(DOCK8):c.2087A>G (p.Asn696Ser) rs149521894 0.00005
NM_203447.4(DOCK8):c.2731A>G (p.Thr911Ala) rs754915792 0.00005
NM_203447.4(DOCK8):c.3713G>A (p.Arg1238His) rs767874435 0.00005
NM_203447.4(DOCK8):c.5408A>C (p.Lys1803Thr) rs534744136 0.00005
NM_203447.4(DOCK8):c.559G>A (p.Asp187Asn) rs111842279 0.00005
NM_203447.4(DOCK8):c.5671C>T (p.Arg1891Trp) rs144951842 0.00005
NM_203447.4(DOCK8):c.2033G>A (p.Arg678His) rs146223665 0.00004
NM_203447.4(DOCK8):c.3869C>T (p.Ala1290Val) rs138180879 0.00004
NM_203447.4(DOCK8):c.431G>T (p.Gly144Val) rs970255077 0.00004
NM_203447.4(DOCK8):c.5595C>G (p.Ile1865Met) rs151208894 0.00004
NM_203447.4(DOCK8):c.6184G>A (p.Glu2062Lys) rs201733542 0.00004
NM_203447.4(DOCK8):c.2438C>T (p.Thr813Ile) rs762799448 0.00003
NM_203447.4(DOCK8):c.3086C>T (p.Ser1029Leu) rs776318168 0.00003
NM_203447.4(DOCK8):c.3123A>C (p.Glu1041Asp) rs377274335 0.00003
NM_203447.4(DOCK8):c.3209A>G (p.Asn1070Ser) rs368569393 0.00003
NM_203447.4(DOCK8):c.3442G>A (p.Asp1148Asn) rs767147947 0.00003
NM_203447.4(DOCK8):c.650T>G (p.Val217Gly) rs540282180 0.00003
NM_203447.4(DOCK8):c.893A>G (p.Lys298Arg) rs759089561 0.00003
NM_203447.4(DOCK8):c.941G>T (p.Gly314Val) rs372437204 0.00003
NM_203447.4(DOCK8):c.1027A>G (p.Ile343Val) rs143696910 0.00002
NM_203447.4(DOCK8):c.1218A>G (p.Ile406Met) rs769027084 0.00002
NM_203447.4(DOCK8):c.2653C>T (p.Arg885Cys) rs562630169 0.00002
NM_203447.4(DOCK8):c.2971-6C>T rs773500215 0.00002
NM_203447.4(DOCK8):c.3758G>T (p.Gly1253Val) rs774890293 0.00002
NM_203447.4(DOCK8):c.3881G>A (p.Arg1294His) rs759725406 0.00002
NM_203447.4(DOCK8):c.3910A>G (p.Met1304Val) rs376247401 0.00002
NM_203447.4(DOCK8):c.394G>A (p.Val132Met) rs375178634 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.5620G>A (p.Glu1874Lys) rs779199376 0.00002
NM_203447.4(DOCK8):c.562G>A (p.Val188Met) rs201847818 0.00002
NM_203447.4(DOCK8):c.631G>A (p.Glu211Lys) rs747212410 0.00002
NM_203447.4(DOCK8):c.148C>T (p.Leu50Phe) rs1045835531 0.00001
NM_203447.4(DOCK8):c.1726C>G (p.Leu576Val) rs371852141 0.00001
NM_203447.4(DOCK8):c.1823C>G (p.Pro608Arg) rs189953367 0.00001
NM_203447.4(DOCK8):c.2093C>T (p.Ser698Phe) rs763006372 0.00001
NM_203447.4(DOCK8):c.2104G>A (p.Ala702Thr) rs2053325008 0.00001
NM_203447.4(DOCK8):c.2107G>A (p.Glu703Lys) rs769519063 0.00001
NM_203447.4(DOCK8):c.2563G>A (p.Val855Ile) rs368921839 0.00001
NM_203447.4(DOCK8):c.2608G>A (p.Ala870Thr) rs143495336 0.00001
NM_203447.4(DOCK8):c.3011G>A (p.Arg1004Gln) rs778196359 0.00001
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser) rs527474230 0.00001
NM_203447.4(DOCK8):c.3352A>G (p.Thr1118Ala) rs1168450083 0.00001
NM_203447.4(DOCK8):c.3508G>A (p.Ala1170Thr) rs749729496 0.00001
NM_203447.4(DOCK8):c.3511C>G (p.Leu1171Val) rs367567088 0.00001
NM_203447.4(DOCK8):c.398A>G (p.Asn133Ser) rs1031812743 0.00001
NM_203447.4(DOCK8):c.4252G>A (p.Glu1418Lys) rs764918764 0.00001
NM_203447.4(DOCK8):c.4335C>G (p.Ile1445Met) rs2056527904 0.00001
NM_203447.4(DOCK8):c.4423A>G (p.Thr1475Ala) rs774297215 0.00001
NM_203447.4(DOCK8):c.4958C>A (p.Thr1653Asn) rs1401659010 0.00001
NM_203447.4(DOCK8):c.4999C>T (p.His1667Tyr) rs373762198 0.00001
NM_203447.4(DOCK8):c.5356G>A (p.Asp1786Asn) rs769920758 0.00001
NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser) rs766493394 0.00001
NM_203447.4(DOCK8):c.5617G>C (p.Asp1873His) rs2537469688 0.00001
NM_203447.4(DOCK8):c.5629A>G (p.Met1877Val) rs369626419 0.00001
NM_203447.4(DOCK8):c.5710C>T (p.Arg1904Trp) rs772585700 0.00001
NM_203447.4(DOCK8):c.5731G>C (p.Glu1911Gln) rs759086407 0.00001
NM_203447.4(DOCK8):c.6097C>T (p.Arg2033Cys) rs751058288 0.00001
NM_203447.4(DOCK8):c.6238A>G (p.Arg2080Gly) rs545187374 0.00001
NM_203447.4(DOCK8):c.664T>A (p.Phe222Ile) rs764089024 0.00001
NM_203447.4(DOCK8):c.684G>T (p.Glu228Asp) rs780415145 0.00001
NM_203447.4(DOCK8):c.688C>T (p.Arg230Trp) rs768146746 0.00001
NM_203447.4(DOCK8):c.857C>T (p.Ala286Val) rs1272925786 0.00001
NM_203447.4(DOCK8):c.914G>A (p.Cys305Tyr) rs778114411 0.00001
NM_203447.4(DOCK8):c.1072A>G (p.Ile358Val) rs757929543
NM_203447.4(DOCK8):c.1127G>A (p.Ser376Asn) rs2537972672
NM_203447.4(DOCK8):c.1252G>C (p.Glu418Gln)
NM_203447.4(DOCK8):c.1261G>A (p.Val421Ile)
NM_203447.4(DOCK8):c.1369G>T (p.Val457Phe) rs780612775
NM_203447.4(DOCK8):c.1385A>G (p.Lys462Arg)
NM_203447.4(DOCK8):c.1406G>C (p.Ser469Thr) rs376713152
NM_203447.4(DOCK8):c.1448A>T (p.Asp483Val) rs779599066
NM_203447.4(DOCK8):c.1450T>G (p.Leu484Val) rs748775332
NM_203447.4(DOCK8):c.1513C>A (p.Pro505Thr)
NM_203447.4(DOCK8):c.1517G>T (p.Gly506Val)
NM_203447.4(DOCK8):c.1561T>A (p.Cys521Ser)
NM_203447.4(DOCK8):c.1581G>A (p.Met527Ile)
NM_203447.4(DOCK8):c.1618C>G (p.Pro540Ala) rs750221727
NM_203447.4(DOCK8):c.1765A>G (p.Met589Val)
NM_203447.4(DOCK8):c.1906C>T (p.Pro636Ser)
NM_203447.4(DOCK8):c.1979C>T (p.Ala660Val) rs550289472
NM_203447.4(DOCK8):c.2158G>A (p.Gly720Arg)
NM_203447.4(DOCK8):c.2198A>G (p.His733Arg) rs2538332521
NM_203447.4(DOCK8):c.2410G>A (p.Val804Met)
NM_203447.4(DOCK8):c.2410G>T (p.Val804Leu) rs150038381
NM_203447.4(DOCK8):c.2537G>C (p.Cys846Ser)
NM_203447.4(DOCK8):c.2554G>A (p.Val852Met) rs199771908
NM_203447.4(DOCK8):c.2585A>C (p.Gln862Pro) rs2538368569
NM_203447.4(DOCK8):c.2620C>T (p.Leu874Phe) rs1448788640
NM_203447.4(DOCK8):c.2687T>G (p.Leu896Arg) rs2538389098
NM_203447.4(DOCK8):c.2736C>G (p.His912Gln) rs747112580
NM_203447.4(DOCK8):c.2953T>C (p.Phe985Leu) rs767990034
NM_203447.4(DOCK8):c.2971G>C (p.Val991Leu) rs371693235
NM_203447.4(DOCK8):c.2988G>C (p.Gln996His) rs752239200
NM_203447.4(DOCK8):c.3137A>G (p.Glu1046Gly) rs1564009591
NM_203447.4(DOCK8):c.3206T>G (p.Phe1069Cys)
NM_203447.4(DOCK8):c.3217A>G (p.Arg1073Gly) rs1586903036
NM_203447.4(DOCK8):c.3281T>C (p.Leu1094Pro)
NM_203447.4(DOCK8):c.3332T>G (p.Leu1111Arg)
NM_203447.4(DOCK8):c.3342G>T (p.Met1114Ile) rs760903724
NM_203447.4(DOCK8):c.358G>T (p.Asp120Tyr) rs2537583489
NM_203447.4(DOCK8):c.3612A>T (p.Lys1204Asn) rs758993681
NM_203447.4(DOCK8):c.3629A>G (p.Lys1210Arg) rs1313295056
NM_203447.4(DOCK8):c.3686T>A (p.Leu1229His) rs774212652
NM_203447.4(DOCK8):c.3877A>G (p.Thr1293Ala) rs1243111296
NM_203447.4(DOCK8):c.3922G>A (p.Asp1308Asn) rs2538790167
NM_203447.4(DOCK8):c.4108C>T (p.Arg1370Cys)
NM_203447.4(DOCK8):c.412G>C (p.Gly138Arg) rs2537712855
NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser) rs150057289
NM_203447.4(DOCK8):c.4416T>A (p.Asp1472Glu)
NM_203447.4(DOCK8):c.4472A>G (p.Lys1491Arg) rs767950450
NM_203447.4(DOCK8):c.4511G>A (p.Cys1504Tyr) rs2056639975
NM_203447.4(DOCK8):c.4549A>G (p.Ser1517Gly)
NM_203447.4(DOCK8):c.4588C>T (p.Leu1530Phe) rs536373496
NM_203447.4(DOCK8):c.4732T>A (p.Leu1578Met) rs1363343629
NM_203447.4(DOCK8):c.4763A>G (p.Gln1588Arg)
NM_203447.4(DOCK8):c.5245A>G (p.Asn1749Asp) rs2537429942
NM_203447.4(DOCK8):c.5314C>T (p.His1772Tyr)
NM_203447.4(DOCK8):c.5396T>A (p.Phe1799Tyr) rs2131813614
NM_203447.4(DOCK8):c.5408A>G (p.Lys1803Arg) rs534744136
NM_203447.4(DOCK8):c.5556C>G (p.Asp1852Glu) rs1456788934
NM_203447.4(DOCK8):c.5717G>A (p.Arg1906Gln)
NM_203447.4(DOCK8):c.5744G>C (p.Arg1915Thr) rs2537470895
NM_203447.4(DOCK8):c.5797A>C (p.Ser1933Arg)
NM_203447.4(DOCK8):c.590G>C (p.Cys197Ser)
NM_203447.4(DOCK8):c.592G>T (p.Asp198Tyr) rs2130697721
NM_203447.4(DOCK8):c.636C>G (p.Asn212Lys) rs1223609550
NM_203447.4(DOCK8):c.675G>C (p.Gln225His)
NM_203447.4(DOCK8):c.759A>G (p.Ile253Met) rs1343093447
NM_203447.4(DOCK8):c.823T>A (p.Leu275Met)
NM_203447.4(DOCK8):c.841A>G (p.Ile281Val) rs1412000721
NM_203447.4(DOCK8):c.84T>G (p.Phe28Leu) rs2048168645
NM_203447.4(DOCK8):c.859A>C (p.Ser287Arg) rs2050737021
NM_203447.4(DOCK8):c.912C>A (p.His304Gln) rs758600946
NM_203447.4(DOCK8):c.965C>T (p.Ser322Leu)
NM_203447.4(DOCK8):c.989G>C (p.Arg330Thr)

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