ClinVar Miner

List of variants studied for kidney cancer by Illumina Laboratory Services, Illumina

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 375
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HGVS dbSNP gnomAD frequency
NM_000280.4(PAX6):c.*3202G>A rs608293 0.88020
NM_000280.4(PAX6):c.*2893_*2896dupATTT rs397795797 0.87931
NM_000280.4(PAX6):c.*1184A>T rs1506 0.72043
NM_000280.4(PAX6):c.*3958G>A rs3026401 0.70691
NM_000245.4(MET):c.*1428G>A rs1621 0.63315
NM_024426.6(WT1):c.*602A>G rs5030320 0.45163
NM_024426.6(WT1):c.*267G>C rs5030317 0.44381
NM_000280.4(PAX6):c.*2160G>A rs12421026 0.42881
NM_000245.4(MET):c.*2240G>A rs6566 0.34157
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000245.4(MET):c.*1028A>G rs41738 0.34071
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34017
NM_000245.4(MET):c.*1326A>G rs41739 0.34010
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_000280.4(PAX6):c.*2707C>T rs3026398 0.22983
NM_000245.4(MET):c.1944A>G (p.Gln648=) rs13223756 0.16754
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NC_000011.10:g.31787522C>T rs662702 0.14929
NM_024426.6(WT1):c.*88A>G rs5030315 0.14706
NM_024426.6(WT1):c.*224A>G rs5030316 0.13669
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000245.4(MET):c.*684G>A rs12540703 0.05662
NM_000280.4(PAX6):c.*4296G>C rs16922475 0.05615
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_024426.6(WT1):c.*820G>C rs1042347 0.03223
NM_000280.4(PAX6):c.*3736_*3737delCA rs141022497 0.02792
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_000280.4(PAX6):c.*2305G>A rs73477656 0.02650
NM_024426.6(WT1):c.*1132A>T rs5030328 0.02340
NM_024426.6(WT1):c.*835A>G rs5030322 0.02303
NM_000245.4(MET):c.*216C>A rs149188493 0.02223
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_000245.4(MET):c.-14-13C>T rs36080330 0.00978
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_000280.4(PAX6):c.*2559G>A rs141344418 0.00935
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_024426.6(WT1):c.*1209A>G rs5030329 0.00900
NM_024426.6(WT1):c.*1098C>T rs5030327 0.00867
NM_000280.4(PAX6):c.*2416G>T rs79739975 0.00857
NM_000280.4(PAX6):c.*2985G>A rs3026399 0.00813
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_000245.4(MET):c.1085T>C (p.Met362Thr) rs77523018 0.00742
NM_000245.4(MET):c.390C>T (p.Leu130=) rs150588908 0.00740
NM_000280.4(PAX6):c.*2238T>G rs73477658 0.00701
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_024426.6(WT1):c.*897G>C rs5030324 0.00520
NM_000245.4(MET):c.*2202G>A rs14456 0.00515
NM_000245.4(MET):c.*1987C>T rs76322625 0.00499
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_024426.6(WT1):c.*16G>T rs2234594 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000280.4(PAX6):c.*3670C>T rs149777109 0.00394
NM_024426.6(WT1):c.*542G>A rs142726499 0.00380
NM_024426.6(WT1):c.*903G>A rs5030325 0.00370
NM_000245.4(MET):c.*1220G>A rs139535303 0.00336
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00303
NM_000245.4(MET):c.*787G>A rs143472935 0.00290
NM_000245.4(MET):c.*231T>G rs59399612 0.00287
NM_000245.4(MET):c.*1010G>T rs150534017 0.00272
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000245.4(MET):c.*87G>A rs41281081 0.00250
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_000245.4(MET):c.*385G>A rs181068390 0.00235
NM_000280.4(PAX6):c.*1063A>G rs117590302 0.00220
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00194
NM_000245.4(MET):c.*201C>T rs1129355 0.00192
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_000245.4(MET):c.*2100C>T rs190739281 0.00165
NM_024426.6(WT1):c.*138G>A rs111351882 0.00165
NM_000245.4(MET):c.*1871G>A rs139377965 0.00152
NM_000245.4(MET):c.*1224C>T rs149713628 0.00150
NM_000280.4(PAX6):c.*1436G>A rs138035131 0.00148
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_000245.4(MET):c.*656G>A rs531456758 0.00104
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00096
NM_000245.4(MET):c.*602C>T rs147343288 0.00093
NM_000245.4(MET):c.*1886T>A rs536185931 0.00076
NM_000245.4(MET):c.*944A>G rs565768785 0.00076
NM_000280.4(PAX6):c.*3428C>T rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_000245.4(MET):c.3549C>T (p.Gly1183=) rs371165052 0.00074
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_000280.4(PAX6):c.*2882T>C rs143185259 0.00060
NM_024426.6(WT1):c.*513C>T rs575602262 0.00059
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000245.4(MET):c.*1636C>T rs186175651 0.00057
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_000280.4(PAX6):c.*2887delG rs886048188 0.00050
NM_024426.6(WT1):c.-110C>T rs886048241 0.00048
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_000245.4(MET):c.-64G>T rs866509744 0.00042
NM_000280.4(PAX6):c.*3694A>G rs549835579 0.00041
NM_000245.4(MET):c.3810C>T (p.Gly1270=) rs200865810 0.00039
NM_024426.6(WT1):c.375C>T (p.Gly125=) rs776209354 0.00039
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_024426.6(WT1):c.*12C>T rs77462662 0.00034
NM_024426.6(WT1):c.*460C>A rs886048221 0.00034
NM_024426.6(WT1):c.-76T>C rs886048235 0.00032
NM_000280.4(PAX6):c.*1394A>C rs776894983 0.00031
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_024426.6(WT1):c.*1167T>G rs771770230 0.00029
NM_024426.6(WT1):c.1182C>T (p.Arg394=) rs147939483 0.00027
NM_000245.4(MET):c.*1637G>A rs534514626 0.00026
NM_000245.4(MET):c.*655C>T rs563978117 0.00026
NM_000245.4(MET):c.*2079G>A rs757859772 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000280.4(PAX6):c.*1839T>C rs1029065786 0.00024
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_000245.4(MET):c.*1784T>A rs554029534 0.00023
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_000245.4(MET):c.4105T>C (p.Leu1369=) rs45575438 0.00021
NM_024426.6(WT1):c.-106C>T rs867975105 0.00021
NM_000245.4(MET):c.*1593G>A rs764929802 0.00020
NM_000280.4(PAX6):c.*4023G>A rs990066045 0.00020
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_000245.4(MET):c.3522+12G>T rs200624981 0.00019
NM_000280.4(PAX6):c.*2977C>A rs192709453 0.00019
NM_024426.6(WT1):c.*534C>T rs868546165 0.00019
NM_024426.6(WT1):c.124G>A (p.Gly42Ser) rs762288656 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_024426.6(WT1):c.*666A>G rs374306749 0.00018
NM_000280.4(PAX6):c.*3027G>A rs541022955 0.00017
NM_000245.4(MET):c.1263C>T (p.Thr421=) rs45499391 0.00016
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433 0.00016
NM_000245.4(MET):c.2365-14G>T rs769247886 0.00013
NM_024426.6(WT1):c.1017-15T>C rs374441355 0.00012
NM_000280.4(PAX6):c.*1604A>T rs189545730 0.00011
NM_000280.4(PAX6):c.*2087C>A rs923696320 0.00011
NM_000245.4(MET):c.-66G>T rs886061941 0.00010
NM_000245.4(MET):c.*1714C>A rs747850853 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_024426.6(WT1):c.381C>G (p.Pro127=) rs771681406 0.00009
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000280.4(PAX6):c.*1287A>T rs576321279 0.00008
NM_000280.4(PAX6):c.*3565A>G rs1006923180 0.00008
NM_000245.4(MET):c.*1878A>G rs770910579 0.00007
NM_000245.4(MET):c.960G>A (p.Ala320=) rs191198682 0.00007
NM_000280.4(PAX6):c.*3908C>T rs886048185 0.00007
NM_024426.6(WT1):c.*159G>C rs746218880 0.00007
NM_024426.6(WT1):c.*574del rs5030319 0.00007
NM_024426.6(WT1):c.1017-9T>C rs368486676 0.00007
NM_024426.6(WT1):c.1020C>T (p.His340=) rs375114529 0.00007
NM_000245.4(MET):c.*803T>A rs1001801655 0.00006
NM_000245.4(MET):c.12C>T (p.Pro4=) rs772251895 0.00006
NM_000245.4(MET):c.36C>T (p.Leu12=) rs188625702 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_000280.4(PAX6):c.*1969A>G rs1452069622 0.00006
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00006
NM_001368894.2(PAX6):c.*90A>C rs572377074 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_024426.6(WT1):c.-140C>T rs886048244 0.00006
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) rs776954184 0.00006
NM_024426.6(WT1):c.696C>T (p.Ser232=) rs9332974 0.00006
NM_024426.6(WT1):c.785G>A (p.Gly262Asp) rs372225738 0.00006
NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) rs45612435 0.00005
NM_000245.4(MET):c.632T>G (p.Leu211Trp) rs45483396 0.00005
NM_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_000245.4(MET):c.*221G>A rs886061946 0.00004
NM_000245.4(MET):c.*76C>T rs527496385 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.1320A>G (p.Thr440=) rs763726060 0.00004
NM_000245.4(MET):c.1992G>A (p.Pro664=) rs373842614 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00004
NM_000280.4(PAX6):c.*3203A>G rs1010978990 0.00004
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_024426.6(WT1):c.*239G>A rs886048226 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024426.6(WT1):c.813G>C (p.Pro271=) rs1341857958 0.00004
NM_000245.4(MET):c.*2051C>T rs886061951 0.00003
NM_000245.4(MET):c.*296G>C rs1237383281 0.00003
NM_000245.4(MET):c.*397A>G rs559231345 0.00003
NM_000245.4(MET):c.1972G>A (p.Val658Ile) rs587778446 0.00003
NM_000245.4(MET):c.2971C>T (p.Pro991Ser) rs768678989 0.00003
NM_000245.4(MET):c.639G>A (p.Ser213=) rs587780738 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_000280.4(PAX6):c.*2490G>A rs886048191 0.00003
NM_000280.4(PAX6):c.*2906A>G rs886048187 0.00003
NM_000280.4(PAX6):c.*3107C>T rs994285025 0.00003
NM_000280.4(PAX6):c.*4533T>C rs745626044 0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His) rs554416372 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_000245.4(MET):c.*530G>A rs185897782 0.00002
NM_000245.4(MET):c.1965+14T>C rs543293293 0.00002
NM_000245.4(MET):c.4074C>T (p.Asn1358=) rs772860611 0.00002
NM_000280.4(PAX6):c.*4696G>C rs180780893 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_024426.6(WT1):c.*110C>T rs757474299 0.00002
NM_024426.6(WT1):c.*785C>A rs886048214 0.00002
NM_024426.6(WT1):c.587G>A (p.Gly196Asp) rs753112302 0.00002
NM_024426.6(WT1):c.887+4G>A rs778673400 0.00002
NM_000245.4(MET):c.*1477C>T rs750893461 0.00001
NM_000245.4(MET):c.*41A>G rs771518812 0.00001
NM_000245.4(MET):c.1693A>G (p.Ile565Val) rs745479104 0.00001
NM_000245.4(MET):c.2673C>T (p.Ala891=) rs561131509 0.00001
NM_000245.4(MET):c.3091A>G (p.Met1031Val) rs45564937 0.00001
NM_000245.4(MET):c.600C>G (p.Thr200=) rs1225303075 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000280.4(PAX6):c.*1053T>C rs886048197 0.00001
NM_000280.4(PAX6):c.*1521C>T rs886048196 0.00001
NM_000280.4(PAX6):c.*2387G>T rs886048194 0.00001
NM_000280.4(PAX6):c.*2551C>T rs886048190 0.00001
NM_000280.4(PAX6):c.*5006C>G rs748381549 0.00001
NM_000280.4(PAX6):c.*939A>G rs886048198 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.*272T>G rs934715799 0.00001
NM_001368894.2(PAX6):c.*626G>C rs1250874661 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) rs1159095794 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) rs75572362 0.00001
NM_024426.6(WT1):c.*1066T>G rs936717004 0.00001
NM_024426.6(WT1):c.*611C>T rs886048220 0.00001
NM_024426.6(WT1):c.*614A>C rs886048219 0.00001
NM_024426.6(WT1):c.1198T>C (p.Tyr400His) rs746353651 0.00001
NM_024426.6(WT1):c.1568G>A (p.Ter523=) rs148856160 0.00001
NM_024426.6(WT1):c.620T>G (p.Leu207Arg) rs1258754686 0.00001
NM_024426.6(WT1):c.83G>A (p.Gly28Glu) rs751641518 0.00001
NM_024426.6(WT1):c.973G>A (p.Ala325Thr) rs1712081462 0.00001
NM_000245.4(MET):c.*105C>A rs886061945
NM_000245.4(MET):c.*1233G>A rs560568639
NM_000245.4(MET):c.*1244G>A rs144559852
NM_000245.4(MET):c.*1244G>T rs144559852
NM_000245.4(MET):c.*1359T>C rs1795712500
NM_000245.4(MET):c.*1460C>G rs886061949
NM_000245.4(MET):c.*1809C>T rs868554436
NM_000245.4(MET):c.*1882G>T rs886061950
NM_000245.4(MET):c.*1909A>G rs1795730503
NM_000245.4(MET):c.*1929A>G rs1321841621
NM_000245.4(MET):c.*2134T>A rs144156652
NM_000245.4(MET):c.*2147T>C rs1795737615
NM_000245.4(MET):c.*2202G>T rs14456
NM_000245.4(MET):c.*2245G>T rs1447240969
NM_000245.4(MET):c.*27C>A rs1795669540
NM_000245.4(MET):c.*2G>T rs1795668471
NM_000245.4(MET):c.*359G>A rs1795682838
NM_000245.4(MET):c.*376G>T rs553602374
NM_000245.4(MET):c.*422T>A rs886061947
NM_000245.4(MET):c.*438T>A rs955990225
NM_000245.4(MET):c.*480T>C rs1207133647
NM_000245.4(MET):c.*493A>C rs1795687373
NM_000245.4(MET):c.*786C>T rs935854365
NM_000245.4(MET):c.*984C>T rs573510587
NM_000245.4(MET):c.*995G>T rs886061948
NM_000245.4(MET):c.-109C>T rs1796009308
NM_000245.4(MET):c.-157T>G rs886061940
NM_000245.4(MET):c.-165C>G rs886061939
NM_000245.4(MET):c.-180C>A rs886061938
NM_000245.4(MET):c.-182C>A rs536603694
NM_000245.4(MET):c.-35C>G rs1796012626
NM_000245.4(MET):c.1011G>A (p.Leu337=) rs886061942
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_000245.4(MET):c.1489A>G (p.Asn497Asp) rs766209435
NM_000245.4(MET):c.1863-5dup rs766900241
NM_000245.4(MET):c.1965+11T>G rs780230492
NM_000245.4(MET):c.2510A>G (p.His837Arg) rs1041349799
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu) rs45612435
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp) rs1794955289
NM_000245.4(MET):c.367G>A (p.Asp123Asn) rs760106468
NM_000245.4(MET):c.847T>C (p.Ser283Pro) rs1791505194
NM_000280.4(PAX6):c.*1868C>A rs1948792866
NM_000280.4(PAX6):c.*2159C>T rs3026396
NM_000280.4(PAX6):c.*2354C>T rs1948752515
NM_000280.4(PAX6):c.*2385G>C rs886048195
NM_000280.4(PAX6):c.*2393T>C rs886048193
NM_000280.4(PAX6):c.*2432A>G rs886048192
NM_000280.4(PAX6):c.*2638C>G rs865924000
NM_000280.4(PAX6):c.*2695A>T rs558836571
NM_000280.4(PAX6):c.*2704A>T rs1948715280
NM_000280.4(PAX6):c.*2705_*2707delAGC rs886048189
NM_000280.4(PAX6):c.*2822T>C rs906435505
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000280.4(PAX6):c.*3418C>T rs1948639449
NM_000280.4(PAX6):c.*3700_*3701delGT rs886048186
NM_000280.4(PAX6):c.*3888C>A rs1948594512
NM_000280.4(PAX6):c.*4003G>T rs886048184
NM_000280.4(PAX6):c.*4076A>C rs886048183
NM_000280.4(PAX6):c.*4128C>T rs886048182
NM_000280.4(PAX6):c.*4361T>C rs886048181
NM_000280.4(PAX6):c.*4369G>C rs544117348
NM_000280.4(PAX6):c.*4599T>G rs185968715
NM_000280.4(PAX6):c.*4784C>T rs1269133831
NM_000280.4(PAX6):c.*4795T>G rs1171230486
NM_000280.4(PAX6):c.*4919_*4921delATTinsCACAGATTAAAAGAAATG rs886048180
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*247T>A rs1468270124
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-167G>T rs1956928845
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) rs1953969921
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) rs371018133
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) rs1953501315
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) rs373715028
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) rs1954524676
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) rs1592415376
NM_024426.6(WT1):c.*100A>G rs1851738551
NM_024426.6(WT1):c.*1021GT[14] rs58549495
NM_024426.6(WT1):c.*1021GT[15] rs58549495
NM_024426.6(WT1):c.*1021GT[18] rs58549495
NM_024426.6(WT1):c.*1021GT[19] rs58549495
NM_024426.6(WT1):c.*1021GT[20] rs58549495
NM_024426.6(WT1):c.*1049del rs568803808
NM_024426.6(WT1):c.*1058G>T rs886048211
NM_024426.6(WT1):c.*1225T>C rs886048210
NM_024426.6(WT1):c.*1239T>A rs534396876
NM_024426.6(WT1):c.*269G>T rs886048225
NM_024426.6(WT1):c.*345G>A rs5030318
NM_024426.6(WT1):c.*354G>T rs886048224
NM_024426.6(WT1):c.*366C>A rs886048223
NM_024426.6(WT1):c.*393G>T rs886048222
NM_024426.6(WT1):c.*5T>C rs765743928
NM_024426.6(WT1):c.*629T>C rs1851723085
NM_024426.6(WT1):c.*685G>T rs886048218
NM_024426.6(WT1):c.*707C>A rs886048217
NM_024426.6(WT1):c.*741G>T rs886048216
NM_024426.6(WT1):c.*768A>C rs886048215
NM_024426.6(WT1):c.*841C>A rs886048213
NM_024426.6(WT1):c.*864T>A rs5030323
NM_024426.6(WT1):c.*864T>G rs5030323
NM_024426.6(WT1):c.*978dup rs5030326
NM_024426.6(WT1):c.-102C>A rs886048240
NM_024426.6(WT1):c.-114T>A rs886048242
NM_024426.6(WT1):c.-135G>A rs886048243
NM_024426.6(WT1):c.-31G>T rs886048234
NM_024426.6(WT1):c.-82A>C rs886048236
NM_024426.6(WT1):c.-86T>C rs886048237
NM_024426.6(WT1):c.-87C>T rs1395440150
NM_024426.6(WT1):c.-90T>C rs886048238
NM_024426.6(WT1):c.-94G>C rs886048239
NM_024426.6(WT1):c.1200C>T (p.Tyr400=) rs886048227
NM_024426.6(WT1):c.136G>T (p.Ala46Ser) rs886048233
NM_024426.6(WT1):c.174C>G (p.Leu58=) rs886048232
NM_024426.6(WT1):c.247G>T (p.Ala83Ser) rs886048231
NM_024426.6(WT1):c.285C>T (p.Gly95=) rs886048230
NM_024426.6(WT1):c.298C>G (p.Pro100Ala) rs567200038
NM_024426.6(WT1):c.313G>T (p.Ala105Ser) rs1236417259
NM_024426.6(WT1):c.347C>T (p.Pro116Leu) rs886048229
NM_024426.6(WT1):c.390A>G (p.Pro130=) rs886048228
NM_024426.6(WT1):c.402G>A (p.Pro134=) rs777527675
NM_024426.6(WT1):c.695G>C (p.Ser232Thr) rs761913397

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