ClinVar Miner

List of variants in gene DOK7 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.772+198T>C rs2699418 0.80260
NM_001301071.2(DOK7):c.1693+33A>G rs2858037 0.69039
NM_173660.5(DOK7):c.*249T>C rs2858030 0.68947
NM_001301071.2(DOK7):c.*105T>C rs2003807 0.68930
NM_001301071.2(DOK7):c.1541-129T>C rs2699409 0.68781
NM_001301071.2(DOK7):c.1498-99T>C rs3135164 0.54771
NM_001301071.2(DOK7):c.*297A>G rs2858017 0.54235
NM_173660.5(DOK7):c.532+54T>C rs2699426 0.54038
NM_001301071.2(DOK7):c.1541-54A>G rs2858036 0.53285
NM_001301071.2(DOK7):c.1541-143C>A rs2858035 0.53244
NM_001301071.2(DOK7):c.1541-176G>C rs10805009 0.49155
NM_173660.5(DOK7):c.*55C>G rs11733064 0.37096
NM_001301071.2(DOK7):c.1694-116G>C rs2071700 0.34112
NM_173660.5(DOK7):c.100+288G>C rs7692245 0.23054
NM_173660.5(DOK7):c.100+161C>T rs7663875 0.22272
NM_173660.5(DOK7):c.332-189A>C rs146928945 0.20519
NM_173660.5(DOK7):c.773-56G>A rs6830812 0.20140
NM_001301071.2(DOK7):c.1694-33C>T rs2071701 0.18186
NM_001301071.2(DOK7):c.1540+307G>A rs16844487 0.18160
NM_173660.5(DOK7):c.332-191T>C rs556184219 0.16410
NM_173660.5(DOK7):c.332-113T>C rs530579837 0.14396
NM_001301071.2(DOK7):c.*43C>T rs71608283 0.14251
NM_173660.5(DOK7):c.773-142C>T rs13115832 0.13538
NM_173660.5(DOK7):c.773-136G>C rs13146874 0.13447
NM_173660.5(DOK7):c.332-116G>A rs563602472 0.13039
NM_001301071.2(DOK7):c.1540+35G>A rs13130443 0.12880
NM_173660.5(DOK7):c.773-168T>G rs28735586 0.12810
NM_001301071.2(DOK7):c.1693+82C>T rs62272698 0.12794
NM_001301071.2(DOK7):c.1541-19A>G rs13132186 0.12792
NM_173660.5(DOK7):c.100+66A>G rs139051035 0.11496
NM_173660.5(DOK7):c.773-131G>A rs2699415 0.11246
NM_173660.5(DOK7):c.331+27G>A rs77051823 0.09480
NM_173660.5(DOK7):c.773-67G>A rs62272676 0.08672
NM_173660.5(DOK7):c.652+259C>G rs16844425 0.08344
NC_000004.12:g.3463046G>T rs73079081 0.07952
NM_173660.5(DOK7):c.652+50G>A rs2006802 0.06939
NM_173660.5(DOK7):c.331+43G>T rs57204641 0.05537
NM_173660.5(DOK7):c.332-39T>C rs114948213 0.05163
NM_173660.5(DOK7):c.332-69A>G rs2857985 0.03470
NM_173660.5(DOK7):c.332-221C>T rs112795540 0.03413
NM_173660.5(DOK7):c.332-118C>T rs1380430530 0.03355
NM_001301071.2(DOK7):c.1540+10T>C rs146575370 0.03118
NM_173660.5(DOK7):c.332-92C>T rs113470082 0.02700
NM_173660.5(DOK7):c.532+175A>G rs61282869 0.02641
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_173660.5(DOK7):c.100+174C>A rs149895148 0.02135
NM_173660.5(DOK7):c.332-24C>A rs112637134 0.01918
NM_173660.5(DOK7):c.332-38G>A rs115931214 0.01540
NM_173660.5(DOK7):c.332-112G>A rs34427903 0.01425
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_173660.5(DOK7):c.773-51G>A rs73195197 0.01184
NM_173660.5(DOK7):c.*67C>T rs73195198 0.01088
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_001301071.2(DOK7):c.1620C>T (p.Pro540=) rs143778632 0.00976
NM_173660.5(DOK7):c.773-234G>A rs115385122 0.00955
NM_173660.5(DOK7):c.653-271G>A rs79739689 0.00907
NM_001301071.2(DOK7):c.*113G>A rs115864629 0.00883
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_001301071.2(DOK7):c.1541-196del rs200094046 0.00629
NM_173660.5(DOK7):c.532+61T>C rs141667136 0.00593
NM_173660.5(DOK7):c.332-66C>T rs115797134 0.00523
NM_173660.5(DOK7):c.772+256T>G rs562196705 0.00523
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_001301071.2(DOK7):c.1599G>A (p.Ser533=) rs115742102 0.00363
NM_173660.5(DOK7):c.773-300C>G rs75837017 0.00363
NM_173660.5(DOK7):c.*155G>A rs186419797 0.00271
NM_173660.5(DOK7):c.773-320G>A rs116709196 0.00266
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) rs79063654 0.00237
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) rs77513082 0.00232
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) rs150415034 0.00210
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr) rs144592743 0.00202
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_173660.5(DOK7):c.921C>T (p.Ala307=) rs138148221 0.00170
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile) rs202073484 0.00135
NM_173660.5(DOK7):c.1008G>A (p.Ser336=) rs185050737 0.00131
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu) rs147760280 0.00102
NM_173660.5(DOK7):c.331+9C>T rs370879328 0.00098
NM_173660.5(DOK7):c.816C>G (p.His272Gln) rs115614731 0.00098
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00068
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser) rs376509451 0.00063
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala) rs150497723 0.00045
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00043
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys) rs199606134 0.00036
NM_173660.5(DOK7):c.972G>A (p.Pro324=) rs373041663 0.00036
NM_173660.5(DOK7):c.975G>A (p.Arg325=) rs370661591 0.00031
NM_001301071.2(DOK7):c.1594G>A (p.Glu532Lys) rs754345718 0.00030
NM_001301071.2(DOK7):c.1502C>T (p.Ala501Val) rs543548330 0.00029
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln) rs370039804 0.00026
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser) rs377555406 0.00022
NM_173660.5(DOK7):c.282C>T (p.His94=) rs377025553 0.00022
NM_173660.5(DOK7):c.846C>T (p.Thr282=) rs141147662 0.00022
NM_173660.5(DOK7):c.*10A>C rs770677473 0.00021
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu) rs141141719 0.00021
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu) rs377757018 0.00019
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln) rs201304841 0.00019
NM_173660.5(DOK7):c.1320C>T (p.Ala440=) rs368868378 0.00019
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp) rs577156980 0.00017
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln) rs200675356 0.00016
NM_173660.5(DOK7):c.957C>G (p.Pro319=) rs777573281 0.00016
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met) rs373864257 0.00013
NM_173660.5(DOK7):c.1406C>A (p.Pro469His) rs147185207 0.00011
NM_173660.5(DOK7):c.189C>T (p.Cys63=) rs372989037 0.00011
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln) rs576215366 0.00011
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu) rs546889092 0.00011
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp) rs375116985 0.00010
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys) rs560463670 0.00009
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp) rs767909551 0.00009
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys) rs750262940 0.00009
NM_173660.5(DOK7):c.480C>T (p.Tyr160=) rs550024569 0.00009
NM_173660.5(DOK7):c.1084G>A (p.Val362Met) rs760157322 0.00008
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly) rs769974159 0.00008
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00006
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala) rs765625554 0.00006
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln) rs201953114 0.00006
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala) rs759395609 0.00006
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp) rs376280466 0.00006
NM_173660.5(DOK7):c.314G>A (p.Arg105His) rs776352781 0.00005
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser) rs760412846 0.00004
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr) rs753026831 0.00004
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln) rs377554325 0.00004
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr) rs754476094 0.00004
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly) rs769643041 0.00003
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser) rs574663125 0.00003
NM_173660.5(DOK7):c.1262C>A (p.Pro421His) rs373261147 0.00003
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly) rs1390831169 0.00003
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) rs762345055 0.00003
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu) rs769699131 0.00003
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro) rs752168445 0.00003
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) rs200394790 0.00003
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg) rs142510199 0.00002
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys) rs1359635065 0.00002
NM_173660.5(DOK7):c.623G>T (p.Gly208Val) rs572714394 0.00002
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser) rs1425852835 0.00002
NM_001301071.2(DOK7):c.1570C>T (p.Pro524Ser) rs1355513098 0.00001
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu) rs757019137 0.00001
NM_173660.5(DOK7):c.1191G>C (p.Val397=) rs781489489 0.00001
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg) rs756360879 0.00001
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu) rs535473251 0.00001
NM_173660.5(DOK7):c.1446G>A (p.Ala482=) rs773592493 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp) rs753436594 0.00001
NM_173660.5(DOK7):c.475C>T (p.Arg159Cys) rs368891521 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser) rs1301546614 0.00001
NM_173660.5(DOK7):c.652+5G>A rs772918388 0.00001
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala) rs956613882 0.00001
NM_173660.5(DOK7):c.683A>T (p.Glu228Val) rs554429759 0.00001
NM_173660.5(DOK7):c.939T>G (p.Gly313=) rs1321389143 0.00001
GRCh37/hg19 4p16.3(chr4:3469443-3493215)x3
GRCh37/hg19 4p16.3(chr4:3470659-3473718)x3
NC_000004.12:g.3463025del rs11301181
NC_000004.12:g.3463202G>A rs535749814
NM_001301071.2(DOK7):c.*246T>C rs2699407
NM_001301071.2(DOK7):c.1499G>A (p.Gly500Glu) rs577616504
NM_001301071.2(DOK7):c.1540+105T>G rs879039610
NM_001301071.2(DOK7):c.1541-105T>C rs2699408
NM_001301071.2(DOK7):c.1541-188del rs113597595
NM_001301071.2(DOK7):c.1541-193G>C rs76371512
NM_001301071.2(DOK7):c.1587G>T (p.Pro529=)
NM_173660.5(DOK7):c.*147G>A rs73793944
NM_173660.5(DOK7):c.*218C>T rs10022432
NM_173660.5(DOK7):c.*265G>A rs35748957
NM_173660.5(DOK7):c.100+36del rs566267525
NM_173660.5(DOK7):c.101-26G>A rs2344208
NM_173660.5(DOK7):c.101-26G>C rs2344208
NM_173660.5(DOK7):c.101-316del rs35036072
NM_173660.5(DOK7):c.101-349G>C rs73793916
NM_173660.5(DOK7):c.1037C>T (p.Ser346Phe)
NM_173660.5(DOK7):c.1066G>A (p.Ala356Thr)
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu) rs368512847
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp) rs766061571
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val) rs766061571
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser) rs149525610
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu) rs753513427
NM_173660.5(DOK7):c.1223C>G (p.Pro408Arg)
NM_173660.5(DOK7):c.1251C>A (p.Asp417Glu)
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1305C>T (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser) rs201392182
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg) rs201392182
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) rs376805794
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met) rs376805794
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg) rs778266118
NM_173660.5(DOK7):c.1322G>A (p.Gly441Glu)
NM_173660.5(DOK7):c.1323G>A (p.Gly441=) rs755615582
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del) rs779508279
NM_173660.5(DOK7):c.1349G>T (p.Arg450Ile)
NM_173660.5(DOK7):c.1358dup (p.Leu454fs) rs775544277
NM_173660.5(DOK7):c.1373C>T (p.Ala458Val) rs778440478
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.139C>A (p.Arg47Ser)
NM_173660.5(DOK7):c.1402G>T (p.Gly468Cys)
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) rs762148551
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) rs762148551
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val) rs767980190
NM_173660.5(DOK7):c.1451C>A (p.Pro484Gln)
NM_173660.5(DOK7):c.1464C>G (p.Phe488Leu)
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp) rs77513082
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala) rs373205256
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) rs373205256
NM_173660.5(DOK7):c.1499T>G (p.Val500Gly)
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.190G>A (p.Gly64Arg)
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe) rs771583740
NM_173660.5(DOK7):c.230C>T (p.Thr77Met) rs940346413
NM_173660.5(DOK7):c.320C>A (p.Ala107Glu)
NM_173660.5(DOK7):c.332-116_332-65del rs1560212236
NM_173660.5(DOK7):c.332-121G>A rs548157926
NM_173660.5(DOK7):c.332-169C>T rs76913605
NM_173660.5(DOK7):c.332-173G>A rs61597318
NM_173660.5(DOK7):c.332-190G>A rs576150526
NM_173660.5(DOK7):c.332-199G>A rs116737061
NM_173660.5(DOK7):c.332-1G>C
NM_173660.5(DOK7):c.332-49C>T rs114112298
NM_173660.5(DOK7):c.332-50T>C rs137909368
NM_173660.5(DOK7):c.332-56G>A rs2699424
NM_173660.5(DOK7):c.332-56G>T rs2699424
NM_173660.5(DOK7):c.332-70_332-69insGCCCCGCCCACCCTCGATGCCCTCTCGCCCCACCCGCCCATGATGCCCTCTC rs1560212351
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.460C>A (p.Leu154Met)
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) rs550024569
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.532+122C>A rs2857987
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173660.5(DOK7):c.54+29G>T rs767030857
NM_173660.5(DOK7):c.54+32_54+33del rs71180187
NM_173660.5(DOK7):c.54+33del rs71180187
NM_173660.5(DOK7):c.54+33dup rs71180187
NM_173660.5(DOK7):c.55-10G>T rs886043943
NM_173660.5(DOK7):c.584T>A (p.Leu195Gln)
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) rs118203995
NM_173660.5(DOK7):c.614C>T (p.Pro205Leu)
NM_173660.5(DOK7):c.652+253G>A rs62272672
NM_173660.5(DOK7):c.652+65G>A rs144007944
NM_173660.5(DOK7):c.652+7G>A rs886043055
NM_173660.5(DOK7):c.653-265G>A rs743717
NM_173660.5(DOK7):c.653-4A>G rs1577171863
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
NM_173660.5(DOK7):c.680T>C (p.Val227Ala)
NM_173660.5(DOK7):c.682_683delinsTT (p.Glu228Leu)
NM_173660.5(DOK7):c.772+156C>T rs74720042
NM_173660.5(DOK7):c.772+270C>T rs79661487
NM_173660.5(DOK7):c.772+292_772+293del rs144492714
NM_173660.5(DOK7):c.772+327_772+328insCTTCACCCCTTCATTCCTTT rs72349432
NM_173660.5(DOK7):c.773-184A>G rs112482136
NM_173660.5(DOK7):c.773-235C>A rs6844878
NM_173660.5(DOK7):c.773-326G>T rs73793943
NM_173660.5(DOK7):c.773-32del rs34230391
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly) rs142821143
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) rs142821143
NM_173660.5(DOK7):c.794G>A (p.Ser265Asn)
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
NM_173660.5(DOK7):c.899G>C (p.Arg300Thr)
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.941C>T (p.Ala314Val)
NM_173660.5(DOK7):c.948G>C (p.Arg316Ser)
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg) rs376334067
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781

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