ClinVar Miner

List of variants reported as benign for chromosomal disorder

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 602
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.93908
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_000280.4(PAX6):c.*3202G>A rs608293 0.88020
NM_000280.4(PAX6):c.*2893_*2896dupATTT rs397795797 0.87931
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_001002295.2(GATA3):c.*612G>A rs1058240 0.81149
NM_001002295.2(GATA3):c.925-27C>T rs422628 0.76775
NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln) rs1801376 0.72576
NM_000280.4(PAX6):c.*1184A>T rs1506 0.72043
NM_000280.4(PAX6):c.*3958G>A rs3026401 0.70691
NM_001145358.2(SIN3A):c.3592-21T>A rs7403118 0.67414
NM_005573.4(LMNB1):c.*43T>C rs1051643 0.66941
NM_006940.6(SOX5):c.481+29A>G rs7980561 0.66790
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) rs17855830 0.63679
NM_001172509.2(SATB2):c.474-35G>C rs1348813 0.63041
NM_016111.4(TELO2):c.682+115C>T rs2235630 0.61186
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg) rs2235624 0.51194
NM_001211.6(BUB1B):c.2143+15C>T rs11630664 0.46333
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
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_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_016111.4(TELO2):c.2226+38A>G rs11248882 0.42009
NM_001211.6(BUB1B):c.2679-97A>G rs2290551 0.41699
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg) rs2248128 0.41062
NM_016111.4(TELO2):c.2415T>C (p.Ala805=) rs3180228 0.37206
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36334
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_001134673.4(NFIA):c.1083G>A (p.Pro361=) rs2236059 0.29650
NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly) rs644799 0.28044
NM_001211.6(BUB1B):c.1046= (p.Arg349=) rs1801376 0.27424
NM_024426.6(WT1):c.887+16G>A rs1799933 0.26810
NC_000022.11:g.19755901C>T rs41260844 0.23484
NM_000280.4(PAX6):c.*2707C>T rs3026398 0.22983
NM_001211.6(BUB1B):c.1164G>A (p.Ala388=) rs1047130 0.22814
NM_016111.4(TELO2):c.2227-39C>T rs3736721 0.22446
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) rs11740250 0.16701
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_001002295.2(GATA3):c.*517A>G rs9746 0.16581
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NC_000011.10:g.32438918G>A rs6508 0.16158
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
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) rs28932178 0.15259
NC_000011.10:g.31787522C>T rs662702 0.14929
NM_004237.4(TRIP13):c.608+39T>G rs12518024 0.14537
NM_001211.6(BUB1B):c.282G>A (p.Lys94=) rs1801389 0.13756
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) rs3733874 0.12785
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) rs3733875 0.12636
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) rs28932181 0.10490
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=) rs13054377 0.09863
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_001211.6(BUB1B):c.3099A>G (p.Lys1033=) rs35611758 0.08840
NM_001211.6(BUB1B):c.1853T>C (p.Val618Ala) rs1801528 0.08536
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_001211.6(BUB1B):c.9G>T (p.Ala3=) rs7168394 0.05938
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
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_022455.5(NSD1):c.5623-22G>A rs79098301 0.04787
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04781
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_001002295.2(GATA3):c.-60C>T rs11567887 0.04369
NM_022039.4(FBXW4):c.*7G>C rs73349895 0.03898
NM_080647.1(TBX1):c.-882C>T rs41298629 0.03856
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=) rs6875053 0.03827
NM_001211.6(BUB1B):c.1170G>C (p.Glu390Asp) rs1017842 0.03695
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_014679.5(CEP57):c.753G>A (p.Pro251=) rs11742 0.03344
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_014679.5(CEP57):c.798A>G (p.Pro266=) rs61903295 0.02940
NM_022039.4(FBXW4):c.216G>A (p.Gly72=) rs77990860 0.02820
NM_000280.4(PAX6):c.*3736_*3737delCA rs141022497 0.02792
NM_000280.4(PAX6):c.*2305G>A rs73477656 0.02650
NM_005573.4(LMNB1):c.*503A>T rs181936031 0.02624
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_022039.4(FBXW4):c.440C>A (p.Ala147Asp) rs117664315 0.02439
NM_001002295.2(GATA3):c.*1066C>T rs11255509 0.02420
NM_001211.6(BUB1B):c.2523C>T (p.Cys841=) rs34999621 0.02415
NM_001211.6(BUB1B):c.1623T>C (p.Asn541=) rs1129352 0.02405
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_001379200.1(TBX1):c.324G>A (p.Ala108=) rs72646953 0.02309
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_001211.6(BUB1B):c.2856C>T (p.Asp952=) rs1802286 0.02238
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_022039.4(FBXW4):c.*259C>T rs80085258 0.01794
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_012318.3(LETM1):c.326A>G (p.His109Arg) rs62623389 0.01570
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_001379200.1(TBX1):c.102G>T (p.Gly34=) rs72646952 0.01097
NM_001002295.2(GATA3):c.-49C>T rs11567942 0.01056
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
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_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_014679.5(CEP57):c.807+3G>A rs181776180 0.00725
NM_000280.4(PAX6):c.*2238T>G rs73477658 0.00701
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) rs114747882 0.00694
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00663
NM_001378120.1(MBD5):c.2519-18T>G rs555177897 0.00625
NM_014679.5(CEP57):c.333G>C (p.Gln111His) rs117321017 0.00613
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
NM_001211.6(BUB1B):c.348T>C (p.Tyr116=) rs28989189 0.00587
NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=) rs35614606 0.00575
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_014679.5(CEP57):c.979A>G (p.Ile327Val) rs35604386 0.00453
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
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.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
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_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000057.4(BLM):c.3020-66T>C rs28385101 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_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser) rs34998711 0.00350
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_001002295.2(GATA3):c.-48G>T rs554517990 0.00344
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_001002295.2(GATA3):c.-359G>A rs138512915 0.00332
NM_001379200.1(TBX1):c.471C>T (p.Phe157=) rs139776757 0.00318
NM_014679.5(CEP57):c.1036T>C (p.Leu346=) rs34254650 0.00314
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00303
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) rs115816749 0.00290
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_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_001211.6(BUB1B):c.751+15C>T rs74499462 0.00241
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_001379200.1(TBX1):c.519G>A (p.Pro173=) rs111754814 0.00226
NM_000280.4(PAX6):c.*1063A>G rs117590302 0.00220
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_001002295.2(GATA3):c.*664C>T rs192494656 0.00195
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00194
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_022455.5(NSD1):c.4378+26C>T rs139601377 0.00189
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) rs148891711 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_014679.5(CEP57):c.677G>A (p.Arg226His) rs143711180 0.00168
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=) rs141436870 0.00166
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000280.4(PAX6):c.*1436G>A rs138035131 0.00148
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001002295.2(GATA3):c.-69G>A rs28395794 0.00147
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
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_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001379200.1(TBX1):c.954C>T (p.Pro318=) rs201607803 0.00114
NM_002397.5(MEF2C):c.811-13C>T rs201988423 0.00113
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_001211.6(BUB1B):c.2851-17G>A rs145541980 0.00101
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_002397.5(MEF2C):c.834+15C>T rs140447603 0.00097
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00096
NM_001211.6(BUB1B):c.1230C>T (p.Phe410=) rs61733369 0.00094
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=) rs138679257 0.00090
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_001002295.2(GATA3):c.*26C>G rs200946839 0.00082
NM_001379200.1(TBX1):c.90G>T (p.Leu30=) rs770754649 0.00081
NM_001002295.2(GATA3):c.-264G>T rs35971003 0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 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_014679.5(CEP57):c.1272+7_1272+8del rs1491504497 0.00071
NM_001172509.2(SATB2):c.210C>T (p.Asp70=) rs34311963 0.00070
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_001172509.2(SATB2):c.2121C>T (p.Ser707=) rs141424911 0.00067
NM_001172509.2(SATB2):c.195C>T (p.Val65=) rs147613731 0.00065
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_001002295.2(GATA3):c.*798G>A rs531077807 0.00064
NM_001379200.1(TBX1):c.348G>A (p.Val116=) rs148928907 0.00064
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_000304.4(PMP22):c.*200T>G rs142106420 0.00063
NM_001379200.1(TBX1):c.840C>T (p.Thr280=) rs61730282 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_080647.1(TBX1):c.-39C>T rs72646950 0.00063
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_000280.4(PAX6):c.*2882T>C rs143185259 0.00060
NM_001211.6(BUB1B):c.180-3C>T rs200483866 0.00059
NM_005573.4(LMNB1):c.60G>A (p.Thr20=) rs755396585 0.00058
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_024426.6(WT1):c.1161A>G (p.Ala387=) rs141834493 0.00051
NM_002397.5(MEF2C):c.402+16A>G rs373582392 0.00050
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00049
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_001211.6(BUB1B):c.573C>A (p.Ser191=) rs138809057 0.00048
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 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_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_024426.6(WT1):c.375C>T (p.Gly125=) rs776209354 0.00039
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905 0.00038
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_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001379200.1(TBX1):c.540-16C>T rs200786105 0.00033
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_022455.5(NSD1):c.639C>T (p.Ser213=) rs755931458 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_005573.4(LMNB1):c.642+10T>C rs200907573 0.00031
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_001172509.2(SATB2):c.1386+18C>T rs199984701 0.00029
NM_005573.4(LMNB1):c.-314C>T rs561989552 0.00029
NM_014679.5(CEP57):c.807+8G>A rs117602509 0.00029
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_024426.6(WT1):c.1182C>T (p.Arg394=) rs147939483 0.00027
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_000057.4(BLM):c.1883-19A>C rs200507632 0.00025
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_001172509.2(SATB2):c.151G>A (p.Val51Met) rs540871216 0.00025
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_001379200.1(TBX1):c.705C>T (p.Asn235=) rs149453540 0.00024
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=) rs200135498 0.00020
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) rs199574095 0.00020
NM_001002295.2(GATA3):c.*22G>A rs199951165 0.00019
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=) rs150824088 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_001172509.2(SATB2):c.1386+19G>A rs374300066 0.00018
NM_001211.6(BUB1B):c.1920G>A (p.Pro640=) rs755507111 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001172509.2(SATB2):c.405C>T (p.Pro135=) rs150990155 0.00014
NM_005573.4(LMNB1):c.141C>T (p.Ile47=) rs755177047 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=) rs201312975 0.00014
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr) rs142825652 0.00012
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp) rs147191297 0.00011
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu) rs774513612 0.00011
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_022455.5(NSD1):c.1317C>T (p.Asn439=) rs150421873 0.00010
NM_144997.7(FLCN):c.1538+10A>C rs12451312 0.00010
NM_001002295.2(GATA3):c.241+8C>T rs376505863 0.00009
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) rs377604964 0.00009
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr) rs534413662 0.00009
NM_014679.5(CEP57):c.382+20T>G rs140437159 0.00009
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=) rs139879749 0.00009
NM_024426.6(WT1):c.381C>G (p.Pro127=) rs771681406 0.00009
NM_001172509.2(SATB2):c.306G>A (p.Leu102=) rs201405384 0.00008
NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro) rs761395486 0.00008
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly) rs557935727 0.00008
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val) rs753613632 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_024426.6(WT1):c.887+14G>A rs757237600 0.00008
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) rs575091 0.00007
NM_001172509.2(SATB2):c.1776G>A (p.Glu592=) rs375553887 0.00007
NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg) rs201334086 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_024426.6(WT1):c.1017-9T>C rs368486676 0.00007
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475 0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509 0.00006
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00006
NM_000304.4(PMP22):c.*890C>T rs546778557 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_001211.6(BUB1B):c.555A>G (p.Pro185=) rs139794931 0.00006
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser) rs150972614 0.00006
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) rs143705256 0.00006
NM_022455.5(NSD1):c.4642-7T>C rs183928380 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_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_001172509.2(SATB2):c.1173+4C>A rs376920785 0.00005
NM_001172509.2(SATB2):c.1828A>G (p.Ser610Gly) rs1048433974 0.00005
NM_001172509.2(SATB2):c.1843C>T (p.Pro615Ser) rs1394335364 0.00005
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) rs200151142 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736 0.00005
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=) rs756321444 0.00005
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=) rs771044415 0.00004
NM_001172509.2(SATB2):c.169+11G>T rs779817342 0.00004
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001379200.1(TBX1):c.437+11C>T rs751433208 0.00004
NM_002397.5(MEF2C):c.258+10C>T rs563149132 0.00004
NM_005573.4(LMNB1):c.*518T>C rs185784874 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.708G>C (p.Gln236His) rs28932175 0.00004
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024426.6(WT1):c.965+14T>C rs369920807 0.00004
NM_078480.3(PUF60):c.297+9C>T rs1028726810 0.00004
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr) rs200935603 0.00003
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser) rs201864116 0.00003
NM_001172509.2(SATB2):c.700+6C>T rs755400212 0.00003
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser) rs752445724 0.00003
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln) rs549715785 0.00003
NM_001379200.1(TBX1):c.540-17A>C rs750770662 0.00003
NM_001379200.1(TBX1):c.540-7G>A rs372179395 0.00003
NM_005573.4(LMNB1):c.1023C>T (p.Asp341=) rs886059858 0.00003
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=) rs745760201 0.00003
NM_000057.4(BLM):c.3019+17T>C rs532036885 0.00002
NM_000280.4(PAX6):c.*4696G>C rs180780893 0.00002
NM_001172509.2(SATB2):c.121A>G (p.Met41Val) rs919635073 0.00002
NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val) rs1451743452 0.00002
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser) rs756865617 0.00002
NM_001172509.2(SATB2):c.2135A>G (p.Lys712Arg) rs999561200 0.00002
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser) rs1333077167 0.00002
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr) rs773467832 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001378120.1(MBD5):c.1377A>G (p.Arg459=) rs762047019 0.00002
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn) rs150504258 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643 0.00001
NM_000057.4(BLM):c.204C>T (p.Thr68=) rs199927688 0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly) rs746979958 0.00001
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala) rs548018172 0.00001
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met) rs765504446 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1402C>A (p.Pro468Thr) rs770212471 0.00001
NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu) rs746076990 0.00001
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser) rs1302645769 0.00001
NM_001172509.2(SATB2):c.1543-6C>G rs1328592029 0.00001
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys) rs756719862 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.1749T>C (p.His583=) rs199854906 0.00001
NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn) rs915648697 0.00001
NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr) rs551624897 0.00001
NM_001172509.2(SATB2):c.2196G>T (p.Gln732His) rs778160560 0.00001
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg) rs1360355424 0.00001
NM_001172509.2(SATB2):c.597+4A>G rs777983427 0.00001
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu) rs766855879 0.00001
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys) rs1000649173 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr) rs1461281024 0.00001
NM_001378120.1(MBD5):c.109G>A (p.Val37Ile) rs747911147 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) rs576930680 0.00001
NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro) rs144805912 0.00001
NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile) rs973326943 0.00001
NM_001378120.1(MBD5):c.396A>G (p.Thr132=) rs778891789 0.00001
NM_001378120.1(MBD5):c.398-12C>T rs556768118 0.00001
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn) rs763106823 0.00001
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) rs1057522316 0.00001
NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val) rs746105686 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser) rs772659870 0.00001
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=) rs574947516 0.00001
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile) rs750647048 0.00001
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser) rs1322552264 0.00001
NM_002397.5(MEF2C):c.730A>G (p.Met244Val) rs752349182 0.00001
NM_002397.5(MEF2C):c.963C>T (p.Thr321=) rs1363064582 0.00001
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys) rs771251880 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.1220+18del
NM_000057.4(BLM):c.1221-11del
NM_000057.4(BLM):c.2074+12dup
NM_000057.4(BLM):c.2216G>A (p.Gly739Asp)
NM_000057.4(BLM):c.2307+23del
NM_000057.4(BLM):c.2406+16del
NM_000057.4(BLM):c.2406+16dup rs769233210
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.2407-9dup rs747699258
NM_000057.4(BLM):c.2556-130C>T rs28385056
NM_000057.4(BLM):c.2603_2605delinsTAG (p.Pro868_Lys869delinsLeuGlu)
NM_000057.4(BLM):c.2603_2614delinsTAGAAAAGACT (p.Pro868fs)
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.4(BLM):c.3020-3del rs1596259793
NM_000057.4(BLM):c.3210+9del
NM_000057.4(BLM):c.3210+9dup rs1233313033
NM_000057.4(BLM):c.3752-15del
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000057.4(BLM):c.455A>G (p.Asn152Ser) rs749633106
NM_000057.4(BLM):c.799+7A>G rs1596219393
NM_000057.4(BLM):c.800-120T>C rs7183841
NM_000057.4(BLM):c.960-9del
NM_000057.4(BLM):c.98+11del rs2151145130
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000280.4(PAX6):c.*4599T>G rs185968715
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_001002295.2(GATA3):c.-370+28del rs397846644
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) rs143627754
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001145358.2(SIN3A):c.3592-20T>A rs4886696
NM_001172509.2(SATB2):c.1174-16del rs555268633
NM_001172509.2(SATB2):c.1174-16dup
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe) rs1323623166
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser) rs1043250716
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val) rs1559161533
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
NM_001172509.2(SATB2):c.1542+13del
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met) rs188013011
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
NM_001172509.2(SATB2):c.1741G>C (p.Val581Leu) rs1692196446
NM_001172509.2(SATB2):c.1771A>C (p.Lys591Gln) rs2105707537
NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)
NM_001172509.2(SATB2):c.1844C>T (p.Pro615Leu) rs1692191333
NM_001172509.2(SATB2):c.1970A>G (p.His657Arg) rs2105707013
NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)
NM_001172509.2(SATB2):c.2101A>G (p.Asn701Asp)
NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)
NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val) rs2105706426
NM_001172509.2(SATB2):c.2179C>T (p.Pro727Ser)
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys) rs767582582
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.598-13dup rs199978702
NM_001172509.2(SATB2):c.701-12A>C rs116585116
NM_001172509.2(SATB2):c.701-4A>G
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu) rs766855879
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
NM_001172509.2(SATB2):c.752G>A (p.Arg251His) rs2105823583
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.844A>G (p.Ile282Val) rs1688735770
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
NM_001211.6(BUB1B):c.1628+15dup rs943601909
NM_001211.6(BUB1B):c.1628+23dup rs748561005
NM_001211.6(BUB1B):c.2284+17T>G rs13380241
NM_001211.6(BUB1B):c.240-13dup
NM_001211.6(BUB1B):c.2958-13dup rs1170160550
NM_001211.6(BUB1B):c.36-13dup rs150031754
NM_001211.6(BUB1B):c.385-2460_385-2453dup rs979967281
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val) rs1250224277
NM_001378120.1(MBD5):c.156A>G (p.Thr52=) rs796958008
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.2285A>G (p.His762Arg) rs2105641515
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala) rs894958571
NM_001378120.1(MBD5):c.2519-10_2519-9del rs5835195
NM_001378120.1(MBD5):c.2519-9del rs5835195
NM_001378120.1(MBD5):c.2859C>A (p.Ile953=)
NM_001378120.1(MBD5):c.3545-11del
NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp) rs1197271060
NM_001378120.1(MBD5):c.5113-6T>G rs2105294854
NM_001378120.1(MBD5):c.871A>G (p.Met291Val) rs1680681539
NM_001378414.1(HDAC4):c.95-98del rs74761897
NM_001379200.1(TBX1):c.1380T>C (p.His460=) rs367711718
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del) rs752498057
NM_001379200.1(TBX1):c.1419_1430del (p.Ala482_Ala485del) rs751264690
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379200.1(TBX1):c.935+16dup
NM_001379200.1(TBX1):c.936-9del rs763127510
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe) rs2152207244
NM_002397.5(MEF2C):c.1100+6C>G rs1759908843
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro) rs1554098567
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala) rs1194300256
NM_002397.5(MEF2C):c.253G>T (p.Val85Leu)
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu) rs2152673396
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala) rs1561821810
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg) rs1310323196
NM_002397.5(MEF2C):c.638-14dup rs754587449
NM_002397.5(MEF2C):c.638-9del
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val) rs2152280607
NM_002397.5(MEF2C):c.965-6_965-2del rs1064795146
NM_004237.4(TRIP13):c.258+48del rs66843001
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_006940.6(SOX5):c.1771+29G>A rs7485662
NM_014679.5(CEP57):c.622-9dup rs745634452
NM_016111.4(TELO2):c.2407+77A>T rs12927760
NM_016111.4(TELO2):c.933+11del rs11344586
NM_022455.5(NSD1):c.*4611del rs60995782
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) rs150920473
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.4966+96dup rs373383515
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_024426.6(WT1):c.1017-12T>G
NM_024426.6(WT1):c.1017-20dup
NM_024426.6(WT1):c.1122A>C (p.Arg374=) rs16754
NM_024426.6(WT1):c.1448-10G>A rs185744719
NM_024426.6(WT1):c.543C>T (p.Arg181=) rs369870529
NM_024426.6(WT1):c.695G>C (p.Ser232Thr) rs761913397
NM_024426.6(WT1):c.888-8dup
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del) rs371983878
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612

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