ClinVar Miner

List of variants reported as pathogenic for Acute myeloid leukemia

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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
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_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
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
MN1-ETV6 fusion
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_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.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
NM_000546.6(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
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_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.588del (p.Val197fs) rs2057541271
NM_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) rs587776710
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter) rs121434637
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_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.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_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_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_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) rs1761157695
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
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_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999

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