ClinVar Miner

List of variants in gene DOCK8 studied for Inborn genetic diseases

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Total variants: 105
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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.3263C>T (p.Thr1088Met) rs149065013 0.00067
NM_203447.4(DOCK8):c.986C>T (p.Ala329Val) rs75352090 0.00055
NM_203447.4(DOCK8):c.3067A>G (p.Ile1023Val) rs140148619 0.00041
NM_203447.4(DOCK8):c.656C>T (p.Ala219Val) rs144019007 0.00040
NM_203447.4(DOCK8):c.4736C>G (p.Ala1579Gly) rs145202369 0.00031
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val) rs139990627 0.00026
NM_203447.4(DOCK8):c.6221G>C (p.Arg2074Thr) rs375011475 0.00024
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.3721C>T (p.Arg1241Cys) rs556936872 0.00011
NM_203447.4(DOCK8):c.2393A>G (p.Lys798Arg) rs140546511 0.00010
NM_203447.4(DOCK8):c.1097C>T (p.Thr366Met) rs367543787 0.00009
NM_203447.4(DOCK8):c.5266A>C (p.Ile1756Leu) rs373154957 0.00009
NM_203447.4(DOCK8):c.605G>A (p.Arg202His) rs374288188 0.00008
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu) rs369449324 0.00007
NM_203447.4(DOCK8):c.1325C>T (p.Ser442Phe) rs745498345 0.00006
NM_203447.4(DOCK8):c.3713G>A (p.Arg1238His) rs767874435 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.5671C>T (p.Arg1891Trp) rs144951842 0.00005
NM_203447.4(DOCK8):c.2033G>A (p.Arg678His) rs146223665 0.00004
NM_203447.4(DOCK8):c.2731A>G (p.Thr911Ala) rs754915792 0.00004
NM_203447.4(DOCK8):c.3869C>T (p.Ala1290Val) rs138180879 0.00004
NM_203447.4(DOCK8):c.5595C>G (p.Ile1865Met) rs151208894 0.00004
NM_203447.4(DOCK8):c.559G>A (p.Asp187Asn) rs111842279 0.00004
NM_203447.4(DOCK8):c.1817G>A (p.Ser606Asn) rs778451048 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.893A>G (p.Lys298Arg) rs759089561 0.00003
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser) rs527474230 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.5408A>C (p.Lys1803Thr) rs534744136 0.00002
NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys) rs779199376 0.00002
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.2608G>A (p.Ala870Thr) rs143495336 0.00001
NM_203447.4(DOCK8):c.3511C>G (p.Leu1171Val) rs367567088 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.5629A>G (p.Met1877Val) rs369626419 0.00001
NM_203447.4(DOCK8):c.914G>A (p.Cys305Tyr) rs778114411 0.00001
NM_203447.4(DOCK8):c.1027A>G (p.Ile343Val)
NM_203447.4(DOCK8):c.1072A>G (p.Ile358Val)
NM_203447.4(DOCK8):c.1127G>A (p.Ser376Asn)
NM_203447.4(DOCK8):c.1369G>T (p.Val457Phe)
NM_203447.4(DOCK8):c.1406G>A (p.Ser469Asn)
NM_203447.4(DOCK8):c.1406G>C (p.Ser469Thr)
NM_203447.4(DOCK8):c.1448A>T (p.Asp483Val)
NM_203447.4(DOCK8):c.1450T>G (p.Leu484Val)
NM_203447.4(DOCK8):c.1618C>G (p.Pro540Ala)
NM_203447.4(DOCK8):c.1726C>G (p.Leu576Val)
NM_203447.4(DOCK8):c.2198A>G (p.His733Arg)
NM_203447.4(DOCK8):c.2410G>T (p.Val804Leu)
NM_203447.4(DOCK8):c.2585A>C (p.Gln862Pro)
NM_203447.4(DOCK8):c.2687T>G (p.Leu896Arg)
NM_203447.4(DOCK8):c.2736C>G (p.His912Gln) rs747112580
NM_203447.4(DOCK8):c.2953T>C (p.Phe985Leu)
NM_203447.4(DOCK8):c.2971G>C (p.Val991Leu)
NM_203447.4(DOCK8):c.2988G>C (p.Gln996His)
NM_203447.4(DOCK8):c.3086C>T (p.Ser1029Leu)
NM_203447.4(DOCK8):c.3137A>G (p.Glu1046Gly)
NM_203447.4(DOCK8):c.3217A>G (p.Arg1073Gly)
NM_203447.4(DOCK8):c.3342G>T (p.Met1114Ile)
NM_203447.4(DOCK8):c.3352A>G (p.Thr1118Ala)
NM_203447.4(DOCK8):c.358G>T (p.Asp120Tyr)
NM_203447.4(DOCK8):c.3612A>T (p.Lys1204Asn) rs758993681
NM_203447.4(DOCK8):c.3629A>G (p.Lys1210Arg)
NM_203447.4(DOCK8):c.3686T>A (p.Leu1229His)
NM_203447.4(DOCK8):c.3877A>G (p.Thr1293Ala)
NM_203447.4(DOCK8):c.3922G>A (p.Asp1308Asn)
NM_203447.4(DOCK8):c.398A>G (p.Asn133Ser)
NM_203447.4(DOCK8):c.412G>C (p.Gly138Arg)
NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser) rs150057289
NM_203447.4(DOCK8):c.431G>T (p.Gly144Val)
NM_203447.4(DOCK8):c.4335C>G (p.Ile1445Met)
NM_203447.4(DOCK8):c.4423A>G (p.Thr1475Ala)
NM_203447.4(DOCK8):c.4472A>G (p.Lys1491Arg)
NM_203447.4(DOCK8):c.4511G>A (p.Cys1504Tyr)
NM_203447.4(DOCK8):c.4588C>T (p.Leu1530Phe)
NM_203447.4(DOCK8):c.4732T>A (p.Leu1578Met)
NM_203447.4(DOCK8):c.5245A>G (p.Asn1749Asp)
NM_203447.4(DOCK8):c.5356G>A (p.Asp1786Asn)
NM_203447.4(DOCK8):c.5396T>A (p.Phe1799Tyr) rs2131813614
NM_203447.4(DOCK8):c.5408A>G (p.Lys1803Arg)
NM_203447.4(DOCK8):c.5602G>C (p.Val1868Leu)
NM_203447.4(DOCK8):c.5617G>C (p.Asp1873His)
NM_203447.4(DOCK8):c.5744G>C (p.Arg1915Thr)
NM_203447.4(DOCK8):c.592G>T (p.Asp198Tyr)
NM_203447.4(DOCK8):c.636C>G (p.Asn212Lys) rs1223609550
NM_203447.4(DOCK8):c.650T>G (p.Val217Gly)
NM_203447.4(DOCK8):c.684G>T (p.Glu228Asp)
NM_203447.4(DOCK8):c.759A>G (p.Ile253Met)
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.857C>T (p.Ala286Val)
NM_203447.4(DOCK8):c.859A>C (p.Ser287Arg)
NM_203447.4(DOCK8):c.918_919insTTGAACT (p.Asp310fs) rs1064793335
NM_203447.4(DOCK8):c.941G>T (p.Gly314Val)

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