ClinVar Miner

List of variants reported as pathogenic for acute myeloid leukemia by OMIM

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
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_863dup (p.Trp288fs) 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_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>T (p.Asp835Val) rs121909646
NM_004119.2(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
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.148G>T (p.Glu50Ter) rs121912791
NM_004364.4(CEBPA):c.211_214dup (p.Ala72fs) rs587776849
NM_004364.4(CEBPA):c.251A>T (p.His84Leu) rs28931590
NM_004364.4(CEBPA):c.68del (p.Pro23fs) 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_004985.5(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_022552.4(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.4(DNMT3A):c.2645G>A (p.Arg882His) rs147001633

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