ClinVar Miner

List of variants in gene DOK7 reported as uncertain significance for not provided

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Gene type:
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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
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.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.1007C>T (p.Ser336Leu) rs377757018 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.1406C>A (p.Pro469His) rs147185207 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.1403G>A (p.Gly468Asp) rs767909551 0.00009
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys) rs750262940 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.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.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.472C>T (p.Arg158Trp) rs753436594 0.00001
NM_173660.5(DOK7):c.475C>T (p.Arg159Cys) rs368891521 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser) rs1301546614 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_001301071.2(DOK7):c.1499G>A (p.Gly500Glu) rs577616504
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.1139C>A (p.Ala380Asp) rs766061571
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val) rs766061571
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.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.1340_1354del (p.Leu447_Arg451del) rs779508279
NM_173660.5(DOK7):c.1349G>T (p.Arg450Ile)
NM_173660.5(DOK7):c.1373C>T (p.Ala458Val) rs778440478
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.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.320C>A (p.Ala107Glu)
NM_173660.5(DOK7):c.460C>A (p.Leu154Met)
NM_173660.5(DOK7):c.55-10G>T rs886043943
NM_173660.5(DOK7):c.584T>A (p.Leu195Gln)
NM_173660.5(DOK7):c.614C>T (p.Pro205Leu)
NM_173660.5(DOK7):c.652+7G>A rs886043055
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.781C>G (p.Arg261Gly) 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

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