ClinVar Miner

List of variants studied for chromosomal disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (211):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 432
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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_001002295.2(GATA3):c.*612G>A rs1058240 0.81149
NM_000280.4(PAX6):c.*1184A>T rs1506 0.72043
NM_000280.4(PAX6):c.*3958G>A rs3026401 0.70691
NM_005573.4(LMNB1):c.*43T>C rs1051643 0.66941
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_005573.4(LMNB1):c.*239C>T rs1051644 0.42884
NM_000280.4(PAX6):c.*2160G>A rs12421026 0.42881
NM_001002295.2(GATA3):c.-251G>A rs10905277 0.42864
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000280.4(PAX6):c.*2707C>T rs3026398 0.22983
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_001002295.2(GATA3):c.*517A>G rs9746 0.16581
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_022039.4(FBXW4):c.461T>A (p.Val154Glu) rs61382490 0.15406
NC_000011.10:g.31787522C>T rs662702 0.14929
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_005573.4(LMNB1):c.*18C>T rs2230151 0.05698
NM_000280.4(PAX6):c.*4296G>C rs16922475 0.05615
NM_005573.4(LMNB1):c.-298G>T rs111865788 0.05448
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=) rs3749830 0.05426
NM_001002295.2(GATA3):c.621C>T (p.Ala207=) rs2229359 0.05137
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_001002295.2(GATA3):c.-60C>T rs11567887 0.04369
NM_022039.4(FBXW4):c.*7G>C rs73349895 0.03898
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=) rs6875053 0.03827
NM_001002295.2(GATA3):c.606T>C (p.Arg202=) rs2228254 0.03693
NM_001002295.2(GATA3):c.*93C>T rs2229360 0.03683
NM_001002295.2(GATA3):c.-58C>T rs412359 0.03619
NM_001002295.2(GATA3):c.1257G>A (p.Thr419=) rs11567941 0.03143
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) rs34224885 0.02972
NM_022039.4(FBXW4):c.216G>A (p.Gly72=) rs77990860 0.02820
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_005573.4(LMNB1):c.*503A>T rs181936031 0.02624
NM_022039.4(FBXW4):c.440C>A (p.Ala147Asp) rs117664315 0.02439
NM_001002295.2(GATA3):c.*1066C>T rs11255509 0.02420
NM_022039.4(FBXW4):c.*259C>T rs80085258 0.01794
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) rs36105360 0.01478
NM_000304.4(PMP22):c.-74A>G rs114365663 0.01441
NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro) rs111600818 0.01363
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001002295.2(GATA3):c.-49C>T rs11567942 0.01056
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_000280.4(PAX6):c.*2559G>A rs141344418 0.00935
NM_005573.4(LMNB1):c.279C>T (p.Leu93=) rs74362780 0.00909
NM_000280.4(PAX6):c.*2416G>T rs79739975 0.00857
NM_000304.4(PMP22):c.-86A>C rs140650630 0.00832
NM_000057.4(BLM):c.*108C>T rs28363374 0.00823
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_000280.4(PAX6):c.*2238T>G rs73477658 0.00701
NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=) rs35614606 0.00575
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_024426.6(WT1):c.*897G>C rs5030324 0.00520
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_001002295.2(GATA3):c.*987T>G rs183890714 0.00440
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267 0.00407
NM_000280.4(PAX6):c.*3670C>T rs149777109 0.00394
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_024426.6(WT1):c.*542G>A rs142726499 0.00380
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.*912G>A rs149070440 0.00366
NM_005573.4(LMNB1):c.*691A>G rs77429268 0.00356
NM_022039.4(FBXW4):c.134C>T (p.Ala45Val) rs557225276 0.00351
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_001002295.2(GATA3):c.-48G>T rs554517990 0.00344
NM_001002295.2(GATA3):c.-359G>A rs138512915 0.00332
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00303
NM_005573.4(LMNB1):c.*284T>G rs550205958 0.00297
NM_005573.4(LMNB1):c.852T>C (p.Ser284=) rs61726489 0.00288
NM_001002295.2(GATA3):c.*491A>G rs138815232 0.00283
NM_022039.4(FBXW4):c.1011T>C (p.Asp337=) rs61742882 0.00281
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_022039.4(FBXW4):c.*453C>T rs570558261 0.00263
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_022039.4(FBXW4):c.*233G>T rs535051082 0.00231
NM_000280.4(PAX6):c.*1063A>G rs117590302 0.00220
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_001002295.2(GATA3):c.*664C>T rs192494656 0.00195
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00194
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_024426.6(WT1):c.*138G>A rs111351882 0.00165
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000304.4(PMP22):c.*205C>A rs189734097 0.00154
NM_000280.4(PAX6):c.*1436G>A rs138035131 0.00148
NM_001002295.2(GATA3):c.-69G>A rs28395794 0.00147
NM_000057.4(BLM):c.*77T>A rs116293756 0.00133
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_005573.4(LMNB1):c.1492-11G>T rs201050320 0.00120
NM_001002295.2(GATA3):c.-351C>T rs34628951 0.00117
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_005573.4(LMNB1):c.*54A>T rs370551700 0.00099
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00096
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=) rs138679257 0.00090
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_001002295.2(GATA3):c.*26C>G rs200946839 0.00082
NM_001002295.2(GATA3):c.-264G>T rs35971003 0.00077
NM_000280.4(PAX6):c.*3428C>T rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001002295.2(GATA3):c.-95G>T rs369825935 0.00074
NM_005573.4(LMNB1):c.*15T>C rs140296800 0.00073
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_001002295.2(GATA3):c.*798G>A rs531077807 0.00064
NM_000304.4(PMP22):c.*200T>G rs142106420 0.00063
NM_000280.4(PAX6):c.*2882T>C rs143185259 0.00060
NM_005573.4(LMNB1):c.60G>A (p.Thr20=) rs755396585 0.00058
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000280.4(PAX6):c.*2887delG rs886048188 0.00050
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_000304.4(PMP22):c.*173C>T rs117277951 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000304.4(PMP22):c.*542C>T rs184928176 0.00042
NM_022455.5(NSD1):c.*3098dup rs145155077 0.00042
NM_022039.4(FBXW4):c.*204G>A rs185181909 0.00040
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_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_000304.4(PMP22):c.*1049C>G rs750733887 0.00035
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000127.3(EXT1):c.-642G>A rs534171475 0.00032
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000280.4(PAX6):c.*1394A>C rs776894983 0.00031
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_005573.4(LMNB1):c.642+10T>C rs200907573 0.00031
NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu) rs532195262 0.00031
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_001002295.2(GATA3):c.-495G>C rs556347150 0.00030
NM_001002295.2(GATA3):c.*575A>C rs552915242 0.00029
NM_005573.4(LMNB1):c.-314C>T rs561989552 0.00029
NM_022039.4(FBXW4):c.1235+13T>G rs193073481 0.00024
NM_022039.4(FBXW4):c.192G>A (p.Thr64=) rs886046647 0.00024
NM_000304.4(PMP22):c.*894C>T rs916402753 0.00021
NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr) rs200476624 0.00021
NM_022039.4(FBXW4):c.755T>C (p.Val252Ala) rs143070839 0.00021
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_000057.4(BLM):c.-65C>T rs577293550 0.00019
NM_000280.4(PAX6):c.*2977C>A rs192709453 0.00019
NM_001002295.2(GATA3):c.*22G>A rs199951165 0.00019
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000280.4(PAX6):c.*3027G>A rs541022955 0.00017
NM_001002295.2(GATA3):c.*383T>G rs116910852 0.00017
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000304.3(PMP22):c.-223C>T rs549380262 0.00014
NM_001002295.2(GATA3):c.*952G>A rs773450577 0.00014
NM_005573.4(LMNB1):c.141C>T (p.Ile47=) rs755177047 0.00014
NM_022039.4(FBXW4):c.*600G>A rs1022774144 0.00014
NM_000057.4(BLM):c.-70G>T rs552669203 0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_001002295.2(GATA3):c.990G>A (p.Arg330=) rs374947324 0.00013
NM_005573.4(LMNB1):c.*270T>C rs1021872186 0.00013
NM_000057.4(BLM):c.*142T>C rs1040068612 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000304.4(PMP22):c.*243C>T rs533987307 0.00012
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000280.4(PAX6):c.*1604A>T rs189545730 0.00011
NM_000304.4(PMP22):c.*3C>T rs373690370 0.00011
NM_001002295.2(GATA3):c.72G>A (p.Pro24=) rs202168967 0.00011
NM_005573.4(LMNB1):c.*301T>C rs960666703 0.00011
NM_022039.4(FBXW4):c.726-12G>T rs755969920 0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_001002295.2(GATA3):c.241+8C>T rs376505863 0.00009
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_000280.4(PAX6):c.*1287A>T rs576321279 0.00008
NM_000304.4(PMP22):c.*544C>T rs1329536994 0.00008
NM_000304.4(PMP22):c.*985C>T rs886052610 0.00008
NM_001002295.2(GATA3):c.*656G>A rs929190496 0.00008
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000280.4(PAX6):c.*3908C>T rs886048185 0.00007
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) rs575091 0.00007
NM_024426.6(WT1):c.*574del rs5030319 0.00007
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342 0.00006
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892 0.00006
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00006
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000304.4(PMP22):c.*890C>T rs546778557 0.00006
NM_001002295.2(GATA3):c.-40G>A rs201178566 0.00006
NM_001002295.2(GATA3):c.216G>T (p.Val72=) rs560531559 0.00006
NM_001002295.2(GATA3):c.840G>C (p.Thr280=) rs144796042 0.00006
NM_001042424.3(NSD2):c.*1922dup rs886059331 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys) rs770518721 0.00006
NM_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) rs994236399 0.00005
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His) rs746416284 0.00005
NM_022039.4(FBXW4):c.*3G>A rs777074009 0.00005
NM_022455.5(NSD1):c.*1014dup rs886060448 0.00005
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557 0.00004
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003 0.00004
NM_001002295.2(GATA3):c.*857A>T rs886047304 0.00004
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) rs746926553 0.00004
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_005573.4(LMNB1):c.*518T>C rs185784874 0.00004
NM_022039.4(FBXW4):c.*606A>C rs886046641 0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_000057.4(BLM):c.-29C>T rs886051549 0.00003
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537 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.*4533T>C rs745626044 0.00003
NM_001002295.2(GATA3):c.*105A>G rs886047300 0.00003
NM_001002295.2(GATA3):c.*746C>T rs545858251 0.00003
NM_001002295.2(GATA3):c.-369-11C>T rs886047297 0.00003
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr) rs200935603 0.00003
NM_005573.4(LMNB1):c.1023C>T (p.Asp341=) rs886059858 0.00003
NM_005573.4(LMNB1):c.672A>G (p.Glu224=) rs372510778 0.00003
NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp) rs140286143 0.00003
NM_022455.5(NSD1):c.*4596del rs886060459 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000280.4(PAX6):c.*4696G>C rs180780893 0.00002
NM_000304.4(PMP22):c.*174G>A rs1386490077 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_001002295.2(GATA3):c.*1029C>T rs530772797 0.00002
NM_001002295.2(GATA3):c.*1072C>A rs886047306 0.00002
NM_001002295.2(GATA3):c.-561G>T rs1486145282 0.00002
NM_001002295.2(GATA3):c.57C>T (p.Leu19=) rs749900784 0.00002
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr) rs778421571 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_005573.4(LMNB1):c.1161-6A>G rs765920630 0.00002
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn) rs150504258 0.00002
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) rs374998378 0.00002
NM_022039.4(FBXW4):c.1254G>A (p.Thr418=) rs142870264 0.00002
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys) rs771456995 0.00002
NM_000057.4(BLM):c.-59T>A rs1438250598 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) rs372013507 0.00001
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.98+6T>G rs886051550 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.*939A>G rs886048198 0.00001
NM_000304.4(PMP22):c.*907C>A rs963622100 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
NM_001002295.2(GATA3):c.*267G>A rs886047301 0.00001
NM_001002295.2(GATA3):c.*320T>C rs1003189936 0.00001
NM_001002295.2(GATA3):c.-148A>G rs886047299 0.00001
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=) rs150229374 0.00001
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu) rs752977342 0.00001
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) rs541782074 0.00001
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr) rs752779081 0.00001
NM_001002295.2(GATA3):c.489G>A (p.Pro163=) rs766774125 0.00001
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala) rs548018172 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.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_005068.3(SIM1):c.*1484T>C rs886060891 0.00001
NM_005068.3(SIM1):c.743+10C>G rs886060897 0.00001
NM_005573.4(LMNB1):c.*640G>A rs1294635743 0.00001
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys) rs771251880 0.00001
NM_005573.4(LMNB1):c.775C>T (p.Leu259=) rs575662572 0.00001
NM_022039.4(FBXW4):c.1181A>G (p.His394Arg) rs151048089 0.00001
NM_022039.4(FBXW4):c.1437C>T (p.Ser479=) rs574963392 0.00001
NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln) rs886046642 0.00001
NM_022455.5(NSD1):c.1063+10dup rs762416925 0.00001
NM_000057.4(BLM):c.-33G>C rs938444227
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu) rs760554566
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.436G>C (p.Asp146His) rs1895616204
NM_000280.4(PAX6):c.*2159C>T rs3026396
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.*2705_*2707delAGC rs886048189
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000280.4(PAX6):c.*3700_*3701delGT rs886048186
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.*4599T>G rs185968715
NM_000280.4(PAX6):c.*4919_*4921delATTinsCACAGATTAAAAGAAATG rs886048180
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_000304.4(PMP22):c.*596G>T rs1205135654
NM_000304.4(PMP22):c.*63A>C rs1906244590
NM_000304.4(PMP22):c.*818T>C rs529200588
NM_000304.4(PMP22):c.*911C>T rs1015965333
NM_000304.4(PMP22):c.*961C>G rs760879114
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn) rs189205303
NM_000612.6(IGF2):c.199G>A (p.Val67Ile) rs1564894953
NM_001002295.2(GATA3):c.*264_*265dup rs3839918
NM_001002295.2(GATA3):c.*265dup rs3839918
NM_001002295.2(GATA3):c.*356G>A rs886047302
NM_001002295.2(GATA3):c.*588C>A rs1832985629
NM_001002295.2(GATA3):c.*592G>A rs1832985780
NM_001002295.2(GATA3):c.*598G>A rs187150410
NM_001002295.2(GATA3):c.*647A>G rs563624409
NM_001002295.2(GATA3):c.*714G>A rs886047303
NM_001002295.2(GATA3):c.*747G>A rs899862408
NM_001002295.2(GATA3):c.*863T>A rs1832990708
NM_001002295.2(GATA3):c.*895T>G rs886047305
NM_001002295.2(GATA3):c.-287G>A rs886047298
NM_001002295.2(GATA3):c.-370+28del rs397846644
NM_001002295.2(GATA3):c.-370+28dup rs397846644
NM_001002295.2(GATA3):c.-413C>T rs540527013
NM_001002295.2(GATA3):c.-503_-502dup rs60098638
NM_001002295.2(GATA3):c.-80C>T rs569360560
NM_001002295.2(GATA3):c.327C>T (p.Ala109=) rs1832681004
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) rs143627754
NM_001002295.2(GATA3):c.492C>T (p.Asp164=) rs1832688600
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr) rs148835259
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala) rs148835259
NM_001002295.2(GATA3):c.708C>A (p.Pro236=) rs143582578
NM_001042424.3(NSD2):c.*1370dup rs886059325
NM_001042424.3(NSD2):c.*2012dup rs766138833
NM_001042424.3(NSD2):c.*339CTC[1] rs375129793
NM_001042424.3(NSD2):c.-29-6901dup rs886059308
NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu) rs2073219406
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter) rs1330378388
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
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.589G>C (p.Gly197Arg) rs886048202
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_005068.3(SIM1):c.*1447TG[4] rs886060892
NM_005068.3(SIM1):c.-200del rs146022425
NM_005573.4(LMNB1):c.*189T>G rs1752249694
NM_005573.4(LMNB1):c.*629G>A rs761208282
NM_005573.4(LMNB1):c.*629G>C rs761208282
NM_005573.4(LMNB1):c.*631G>A rs569902214
NM_005573.4(LMNB1):c.*634A>G rs1382551348
NM_005573.4(LMNB1):c.-159C>G rs886059857
NM_005573.4(LMNB1):c.-76G>T rs1371898314
NM_005573.4(LMNB1):c.1387-3T>C rs886059859
NM_005573.4(LMNB1):c.987T>C (p.Ala329=) rs1751792373
NM_019066.5(MAGEL2):c.48G>T (p.Glu16Asp) rs2140719597
NM_022039.4(FBXW4):c.*381C>G rs2063775084
NM_022039.4(FBXW4):c.1170G>T (p.Gly390=) rs2064322238
NM_022039.4(FBXW4):c.1302-9C>T rs771930157
NM_022039.4(FBXW4):c.1473C>T (p.His491=) rs147424741
NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser) rs2064658916
NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly) rs886046645
NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter) rs886046644
NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys) rs886046643
NM_022039.4(FBXW4):c.507G>A (p.Ala169=) rs1404824736
NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser) rs759941552
NM_022039.4(FBXW4):c.822-11C>T rs540055383
NM_022039.4(FBXW4):c.923G>A (p.Arg308His) rs771654851
NM_022455.5(NSD1):c.*216CCAA[1] rs886060444
NM_022455.5(NSD1):c.*4609_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611dup rs60995782
NM_022455.5(NSD1):c.*4611del rs60995782
NM_022455.5(NSD1):c.*4611dup rs60995782
NM_022455.5(NSD1):c.*4612del rs886060465
NM_022455.5(NSD1):c.*565del rs886060446
NM_022455.5(NSD1):c.*839dup rs886060447
NM_022455.5(NSD1):c.5304-2A>G
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.*1058G>T rs886048211
NM_024426.6(WT1):c.*269G>T rs886048225
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.*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.-31G>T rs886048234
NM_024426.6(WT1):c.-82A>C rs886048236
NM_024426.6(WT1):c.-86T>C rs886048237
NM_024426.6(WT1):c.-90T>C rs886048238
NM_024426.6(WT1):c.-94G>C rs886048239
NM_024426.6(WT1):c.136G>T (p.Ala46Ser) rs886048233
NM_024426.6(WT1):c.247G>T (p.Ala83Ser) rs886048231
NM_024426.6(WT1):c.285C>T (p.Gly95=) rs886048230

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