ClinVar Miner

List of variants reported as pathogenic for acute myeloid leukemia

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP
NC_000001.11:g.198807802C>A rs9660525
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2446_2447delinsAT (p.Asp816Ile) rs1057519709
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000314.7(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992
NM_001126112.2(TP53):c.636del (p.Arg213fs) rs864309495
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001282386.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282386.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282386.1(IDH1):c.395G>C (p.Arg132Pro) rs121913500
NM_001282386.1(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu) rs121913502
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) rs121913503
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met) rs121913503
NM_001289910.1(IDH2):c.360G>C (p.Arg120Ser) rs1057519736
NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) rs587776710
NM_001987.4(ETV6):c.226G>T (p.Glu76Ter) rs121434637
NM_002049.3(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002520.6(NPM1):c.860_863dupTCTG rs587776806
NM_002520.6(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.6(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_002520.6(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs)
NM_004119.2(FLT3):c.2503G>A (p.Asp835Asn) rs121913488
NM_004119.2(FLT3):c.2503G>C (p.Asp835His) rs121913488
NM_004119.2(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.2(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.2(FLT3):c.2504A>C (p.Asp835Ala) rs121909646
NM_004119.2(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004119.2(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
NM_004119.2(FLT3):c.2505T>G (p.Asp835Glu) rs121913487
NM_004119.2(FLT3):c.2506A>C (p.Ile836Leu) rs1057519726
NM_004119.2(FLT3):c.2508C>G (p.Ile836Met) rs121913232
NM_004119.2(FLT3):c.2520_2521insGGATCC (p.Asn841_Tyr842insGlySer) rs398122514
NM_004364.4(CEBPA):c.115_121del (p.Pro39fs) rs587776848
NM_004364.4(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.4(CEBPA):c.141del (p.Ala48fs) rs137852730
NM_004364.4(CEBPA):c.148G>T (p.Glu50Ter) rs121912791
NM_004364.4(CEBPA):c.195_198delinsACG (p.Ser65fs)
NM_004364.4(CEBPA):c.198_201dupCTAC (p.Ile68Leufs*41) rs137852731
NM_004364.4(CEBPA):c.211_214dup (p.Ala72fs) rs587776849
NM_004364.4(CEBPA):c.217_218insC (p.Phe73fs) rs137852733
NM_004364.4(CEBPA):c.251A>T (p.His84Leu) rs28931590
NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54) rs137852732
NM_004364.4(CEBPA):c.332_339del (p.Ala111fs) rs1555742213
NM_004364.4(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.4(CEBPA):c.68dupC (p.His24Alafs) rs137852728
NM_004364.4(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.4(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004972.3(JAK2):c.1821G>C (p.Lys607Asn) rs121912472
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_016222.3:c.[711G>T;712C>A]
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562
NM_022455.4(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.4(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_033360.4(KRAS):c.*12A>T rs104894360
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_153759.3(DNMT3A):c.2077C>A (p.Arg693Ser) rs377577594
NM_153759.3(DNMT3A):c.2077C>G (p.Arg693Gly) rs377577594
NM_153759.3(DNMT3A):c.2077C>T (p.Arg693Cys) rs377577594
NM_153759.3(DNMT3A):c.2078G>A (p.Arg693His) rs147001633
NM_153759.3(DNMT3A):c.2078G>C (p.Arg693Pro) rs147001633
NM_153759.3(DNMT3A):c.2078G>T (p.Arg693Leu) rs147001633
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097
NM_199185.3(NPM1):c.782_788delinsCCCTGGCTAGG (p.Trp261fs) rs1561878500
NR_040073.1(MIR181A1HG):n.363+1456C>T rs10800597
NR_040073.1(MIR181A1HG):n.363+1862C>A rs60639710
NR_040073.1(MIR181A1HG):n.363+26A>G rs10800598
NR_040073.1(MIR181A1HG):n.364-18748G>A rs12406470
t(11;17)(q23;q25)

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