ClinVar Miner

List of variants reported as pathogenic for acute leukemia by OMIM

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
FLT3, INTERNAL TANDEM DUP
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_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
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.154_173dup (p.Ala59fs) rs398124628
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
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_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>T (p.Asp835Val) rs121909646
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer) rs398122514
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs) rs587776848
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter) rs121912791
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs) rs587776849
NM_004364.5(CEBPA):c.251A>T (p.His84Leu) rs28931590
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
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_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
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

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