ClinVar Miner

List of variants reported as pathogenic for acute disease

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 327
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HGVS dbSNP gnomAD frequency
NR_040073.1(MIR181A1HG):n.363+26A>G rs10800598 0.73974
NR_040073.1(MIR181A1HG):n.363+1456C>T rs10800597 0.71965
NR_040073.1(MIR181A1HG):n.363+1862C>A rs60639710 0.71928
NR_040073.1(MIR181A1HG):n.364-18748G>A rs12406470 0.47231
NC_000001.11:g.198807802C>A rs9660525 0.38046
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala) rs141905538 0.00025
NM_000542.5(SFTPB):c.361_362insAA (p.Pro121fs) rs779795223 0.00025
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys) rs137853202 0.00016
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter) rs119480072 0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 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_001375462.1(LPP):c.1354C>T (p.Arg452Ter) rs202115941 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_021930.6(RINT1):c.1333+1G>A rs375350359 0.00005
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) rs398124543 0.00004
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu) rs751557097 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln) rs764849762 0.00003
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992 0.00003
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) rs535912271 0.00003
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter) rs539239516 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185 0.00002
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) rs1374482155 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) rs1174791046 0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) rs367683258 0.00001
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 0.00001
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val) rs942522644 0.00001
NM_022552.5(DNMT3A):c.1204C>T (p.Gln402Ter) rs796065342 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
FLT3, INTERNAL TANDEM DUP
MN1-ETV6 fusion
NG_008093.1:g.9237_9238insAluYa59225_9237dup
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) rs121434217
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) rs1057517477
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.1784del (p.Pro595fs) rs760255368
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) rs200080591
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.63dup (p.Ser22fs)
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) rs1555206402
NM_000190.4(HMBS):c.160+5G>C rs1592213590
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.210+1G>C rs2134859316
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.211-1G>T rs1565754452
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) rs1592214498
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) rs1057518886
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) rs118204098
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) rs118204097
NM_000190.4(HMBS):c.499-1G>A rs1565756481
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.612G>T (p.Gln204His) rs1592217847
NM_000190.4(HMBS):c.613-1G>A rs771206317
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) rs118204116
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) rs1555206128
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) rs1565757839
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) rs118204099
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) rs1565757857
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) rs118204112
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) rs118204114
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.771G>A (p.Leu257=) rs1555206170
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) rs1592220835
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.912+1G>C
NM_000190.4(HMBS):c.913-1G>A rs1946325053
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) rs2134885779
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.3(KIT):c.2446_2447delinsAT (p.Asp816Ile) rs1057519709
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000542.5(SFTPB):c.1084-1G>A rs1558572491
NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs) rs35328240
NM_000542.5(SFTPB):c.365del (p.Leu122fs)
NM_000542.5(SFTPB):c.465G>T (p.Gly155=) rs1553380888
NM_000546.6(TP53):c.-19_*21del (p.Met1fs)
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.6(TP53):c.331del (p.Leu111fs) rs2151039122
NM_000546.6(TP53):c.449C>T (p.Thr150Ile) rs2151032692
NM_000546.6(TP53):c.494A>T (p.Gln165Leu)
NM_000546.6(TP53):c.513G>T (p.Glu171Asp)
NM_000546.6(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.6(TP53):c.549A>T (p.Ser183=)
NM_000546.6(TP53):c.576del (p.Gln192fs)
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_001123385.2(BCOR):c.4751del (p.Asn1584fs) rs2146872060
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001349206.2(LPIN1):c.1029del (p.Gln344fs)
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter) rs781748056
NM_001349206.2(LPIN1):c.1549+2T>C rs730880306
NM_001349206.2(LPIN1):c.1564C>T (p.Gln522Ter) rs1674723338
NM_001349206.2(LPIN1):c.2509C>T (p.Arg837Ter) rs119480073
NM_001349206.2(LPIN1):c.643G>T (p.Glu215Ter) rs119480071
NM_001349206.2(LPIN1):c.942del (p.Pro315fs) rs1572770217
NM_001413917.1(ETV6):c.1010-5011_1010-5007del
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.161A>T (p.Glu54Val) rs2058004521
NM_001754.5(RUNX1):c.267G>A (p.Leu89=) rs2146409992
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) rs786205155
NM_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) rs587776710
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter) rs121434637
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer) rs2062673859
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs) rs2062673949
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs) rs2062674122
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs) rs2062674253
NM_002049.4(GATA1):c.219A>G (p.Pro73=) rs2062674480
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.4(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002168.4(IDH2):c.516G>C (p.Arg172Ser) rs1057519736
NM_002467.6(MYC):c.162G>C (p.Glu54Asp) rs121918684
NM_002467.6(MYC):c.214C>T (p.Pro72Ser) rs28933407
NM_002467.6(MYC):c.220C>G (p.Pro74Ala) rs121918685
NM_002467.6(MYC):c.302A>C (p.Asn101Thr) rs121918683
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) rs587776806
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_002520.7(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs) rs1581263026
NM_002520.7(NPM1):c.869_875delinsCCCTGGCTAGG (p.Trp290fs) rs1561878500
NM_002520.7(NPM1):c.875del (p.Lys292fs) rs2113301331
NM_002520.7(NPM1):c.885A>G (p.Ter295=) rs2113301391
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_004119.3(FLT3):c.1777_1779del (p.Asp593del) rs587776834
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) rs121913488
NM_004119.3(FLT3):c.2503G>C (p.Asp835His) rs121913488
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala) rs121909646
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2505T>G (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2506A>C (p.Ile836Leu) rs1057519726
NM_004119.3(FLT3):c.2508C>G (p.Ile836Met) rs121913232
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer) rs398122514
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys) rs369632687
NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys) rs1468313242
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs) rs587776848
NM_004364.5(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.5(CEBPA):c.125del (p.Pro42fs) rs2145264339
NM_004364.5(CEBPA):c.146del (p.Pro49fs)
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter) rs121912791
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter) rs1967195832
NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter) rs1210600080
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)
NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs) rs1060502121
NM_004364.5(CEBPA):c.195_198delinsACG (p.Ser65fs) rs1600023950
NM_004364.5(CEBPA):c.206del (p.Asp69fs) rs1967194243
NM_004364.5(CEBPA):c.209del (p.Pro70fs) rs2145263762
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs) rs587776849
NM_004364.5(CEBPA):c.247del (p.Gln83fs) rs1967192886
NM_004364.5(CEBPA):c.251A>T (p.His84Leu) rs28931590
NM_004364.5(CEBPA):c.292del (p.Thr98fs)
NM_004364.5(CEBPA):c.314A>T (p.Asp105Val) rs2145263100
NM_004364.5(CEBPA):c.320del (p.Asp107fs) rs1600023511
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) rs1555742213
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.60dup (p.Ser21fs) rs2145264820
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.69del (p.His24fs) rs2145264731
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn) rs121912472
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.4(JAK2):c.2048G>C (p.Arg683Thr) rs1057519722
NM_004972.4(JAK2):c.2049A>C (p.Arg683Ser) rs1057519723
NM_004972.4(JAK2):c.2049A>T (p.Arg683Ser) rs1057519723
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005551.5(KLK2):c.748C>T (p.Arg250Trp)
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>C (p.Arg132Pro) rs121913500
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter) rs2153469119
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter) rs2148225587
NM_015909.4(NBAS):c.500_501del (p.Phe167fs)
NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662
NM_016222.3:c.[711G>T;712C>A]
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) rs1761157695
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_017617.5(NOTCH1):c.4775T>G (p.Phe1592Cys) rs796065341
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.2T>A (p.Met1Lys) rs118203992
NM_018006.5(TRMU):c.706-1G>A rs778799889
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) rs118203991
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_020680.4(SCYL1):c.1386+1G>A
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly) rs1554969925
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter) rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter) rs1554970375
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter) rs1320473430
NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro) rs1562849964
NM_022148.4(CRLF2):c.695T>G (p.Phe232Cys) rs1057519743
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser) rs377577594
NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly) rs377577594
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) rs147001633
NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu) rs147001633
NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser) rs1568904872
NM_022829.6(SLC13A3):c.761C>A (p.Ala254Asp) rs1568927501
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs) rs759883057
NM_030930.4(UNC93B1):c.286G>T (p.Glu96Ter) rs753436679
NM_030930.4(UNC93B1):c.341_351del (p.Gly114fs)
NM_030930.4(UNC93B1):c.668_671del (p.Ile223fs)
NM_030930.4(UNC93B1):c.702C>A (p.Cys234Ter) rs772974041
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_138761.4(BAX):c.115_121del (p.Gly39fs) rs398122840
NM_138761.4(BAX):c.199G>A (p.Gly67Arg) rs398122513
NM_145693.2(LPIN1):c.2295-?_2513+?del
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
SFTPB, 1-BP DEL, 457C
Single allele
inv(16)(p13.3q24.3)
t(11;12)(p15;p13)
t(11;17)(q23;q12-q21)
t(11;17)(q23;q25)
t(16;16)(p13.3;q24.3)

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