ClinVar Miner

List of variants reported as likely pathogenic for acute disease

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 441
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_001349206.2(LPIN1):c.1807-2A>G rs533651991 0.00007
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly) rs201966320 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 0.00004
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) rs745646456 0.00003
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys) rs121913491 0.00003
NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186 0.00003
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094 0.00003
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.341-2A>G rs752468216 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.896_906dup (p.Arg303fs) rs766004699 0.00001
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) rs387907272 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys) rs376588714 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427 0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) rs886037843 0.00001
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly) rs775623976 0.00001
NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln) rs754688962 0.00001
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp) rs755415626 0.00001
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter) rs376113678 0.00001
NM_015909.4(NBAS):c.6909T>A (p.Cys2303Ter) rs778338208 0.00001
NC_000002.11:g.(15330528_15358896)_(15449372_15467873)del
NC_000002.11:g.(15378811_15415607)_(15567919_15601324)del
NC_000002.11:g.(15432891_15448339)_(15449372_15467873)del
NC_000002.11:g.(15468437_15470721)_(15496541_15506703)dup
NC_000002.11:g.(15470890_15492115)_(15493835_15496426)del
NC_000002.11:g.(15567919_15601324)_(15618414_15629017)del
NC_000014.9:g.95696766_96390792dup
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000077.5(CDKN2A):c.151-6_151delinsC
NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)
NM_000098.3(CPT2):c.1046dup (p.Asn349fs) rs1057517515
NM_000098.3(CPT2):c.1068dup (p.Asn357Ter)
NM_000098.3(CPT2):c.106dup (p.Gln36fs)
NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)
NM_000098.3(CPT2):c.1198_1199del (p.Gln400fs)
NM_000098.3(CPT2):c.1282dup (p.Thr428fs)
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs) rs1557718075
NM_000098.3(CPT2):c.1324dup (p.Thr442fs) rs1131691330
NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs) rs1553169787
NM_000098.3(CPT2):c.1455_1458dup (p.Glu487fs)
NM_000098.3(CPT2):c.1476_1482dup (p.Lys495fs)
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000098.3(CPT2):c.1836del (p.Tyr614fs)
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.192C>A (p.Tyr64Ter)
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.213_214del (p.Leu72fs) rs751253358
NM_000098.3(CPT2):c.257del (p.Ser86fs)
NM_000098.3(CPT2):c.350_354del (p.Phe117fs) rs778895906
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.725_726del (p.His242fs) rs1238901632
NM_000098.3(CPT2):c.725dup (p.His242fs)
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr) rs2134859037
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) rs1946187914
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro) rs143984293
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)
NM_000190.4(HMBS):c.605dup (p.Gln204fs)
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.815del (p.Lys272fs)
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) rs1592220915
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795
NM_000215.4(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.4(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000542.5(SFTPB):c.324dup (p.Met109fs)
NM_000542.5(SFTPB):c.479del (p.Leu160fs)
NM_000542.5(SFTPB):c.730G>A (p.Gly244Ser) rs1001637675
NM_000546.6(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.6(TP53):c.332T>G (p.Leu111Arg) rs1057519997
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.6(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.6(TP53):c.726C>G (p.Cys242Trp) rs375874539
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.6(TP53):c.764T>G (p.Ile255Ser) rs876659675
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.6(TP53):c.801G>C (p.Arg267=)
NM_000546.6(TP53):c.806G>T (p.Ser269Ile)
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.6(TP53):c.977A>T (p.Glu326Val)
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg) rs751713049
NM_001349206.2(LPIN1):c.2057_2075dup (p.Gly693fs) rs1572931008
NM_001349206.2(LPIN1):c.942del (p.Pro315fs) rs1572770217
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser) rs149680468
NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly) rs149680468
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys) rs149680468
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu) rs1057519896
NM_001377.3(DYNC2H1):c.9157C>T (p.Arg3053Ter) rs1485345396
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly) rs1057519906
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002185.5(IL7R):c.553A>T (p.Ser185Cys) rs1057519759
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) rs869312953
NM_002227.4(JAK1):c.1937C>T (p.Ser646Phe) rs151047872
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe) rs1655079234
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002661.5(PLCG2):c.1993C>T (p.Arg665Trp) rs1057519831
NM_002661.5(PLCG2):c.2535A>C (p.Leu845Phe) rs1057519832
NM_002661.5(PLCG2):c.2535A>T (p.Leu845Phe) rs1057519832
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys) rs1057520009
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala) rs1057520010
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val) rs1057520010
NM_004119.3(FLT3):c.1736T>C (p.Val579Ala) rs1057520022
NM_004119.3(FLT3):c.1771T>G (p.Tyr591Asp) rs1057520043
NM_004119.3(FLT3):c.1772A>G (p.Tyr591Cys) rs1057520024
NM_004119.3(FLT3):c.1775T>C (p.Val592Ala) rs1057520025
NM_004119.3(FLT3):c.1780T>C (p.Phe594Leu) rs1057520021
NM_004119.3(FLT3):c.1855G>T (p.Gly619Cys) rs1057519769
NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly) rs1057519768
NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln) rs1057520026
NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp) rs1057519767
NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe) rs1057519765
NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe) rs1057519763
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2506A>G (p.Ile836Val) rs1057519726
NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe) rs1057519726
NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser) rs1057520023
NM_004119.3(FLT3):c.2508_2510del (p.Ile836del) rs121913490
NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly) rs991132188
NM_004119.3(FLT3):c.2521A>C (p.Asn841His) rs772061268
NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys) rs749281035
NM_004119.3(FLT3):c.2524T>C (p.Tyr842His) rs1057519762
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) rs121913365
NM_004364.5(CEBPA):c.1043G>C (p.Ser348Thr) rs2145258173
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.334_336del (p.Pro112del)
NM_004364.5(CEBPA):c.426del (p.Arg142fs)
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro) rs1600021258
NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp)
NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal)
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu) rs2145258824
NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln)
NM_004364.5(CEBPA):c.936G>A (p.Gln312=) rs1248876880
NM_004364.5(CEBPA):c.943C>A (p.Leu315Met) rs2145258835
NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys)
NM_004364.5(CEBPA):c.956G>T (p.Ser319Ile) rs2145258726
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)
NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)
NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter) rs758626942
NM_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg) rs1060499624
NM_006545.5(NPRL2):c.79-1G>T rs2109368530
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs) rs2052291685
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs) rs2052320698
NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_006758.3(U2AF1):c.470A>G (p.Gln157Arg) rs371246226
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro) rs1057519959
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys) rs775623976
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His) rs1057519961
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter) rs1293916143
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter) rs2043042281
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs) rs1909527513
NM_015909.4(NBAS):c.1A>T (p.Met1Leu) rs368516200
NM_015909.4(NBAS):c.2764-1G>C
NM_015909.4(NBAS):c.4114C>T (p.Gln1372Ter)
NM_015909.4(NBAS):c.4461+2T>C
NM_015909.4(NBAS):c.4520del (p.Leu1507fs)
NM_015909.4(NBAS):c.4698_4741del (p.Ser1567fs)
NM_015909.4(NBAS):c.4838_4839del (p.Val1613fs)
NM_015909.4(NBAS):c.6877del (p.Leu2293fs) rs761634052
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)
NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)
NM_016734.3(PAX5):c.134_147del (p.Ala45fs)
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_016734.3(PAX5):c.263dup (p.Val90fs)
NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)
NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)
NM_016734.3(PAX5):c.46+1G>A
NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)
NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)
NM_016734.3(PAX5):c.77T>G (p.Val26Gly)
NM_016734.3(PAX5):c.963del (p.Ala322fs) rs780753361
NM_016734.3(PAX5):c.963dup (p.Ala322fs)
NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)
NM_018006.5(TRMU):c.1258_1259dup (p.Leu420fs) rs2147124401
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.652-2A>G
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) rs1601977105
NM_018006.5(TRMU):c.711dup (p.Gln238fs)
NM_018006.5(TRMU):c.758T>C (p.Leu253Pro) rs766314948
NM_018006.5(TRMU):c.773-1G>C
NM_018006.5(TRMU):c.873+1G>C
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643
NM_018006.5(TRMU):c.880del (p.Arg294fs) rs1490906786
NM_018006.5(TRMU):c.882del (p.Thr295fs)
NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)
NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs) rs1573338559
NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr) rs1313738991
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) rs771174392
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) rs759380437
NM_022829.6(SLC13A3):c.1478C>T (p.Pro493Leu)
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs) rs1057519745
NM_030930.4(UNC93B1):c.1345_1363+52del
NM_030930.4(UNC93B1):c.781+1G>A
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) rs2107667819
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_198253.3(TERT):c.1620C>G (p.Ile540Met) rs797046041
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
Single allele

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