ClinVar Miner

List of variants studied for acute myeloid leukemia by Database of Curated Mutations (DoCM)

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 199
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HGVS dbSNP
NM_000215.3(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1503G>T (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.3(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
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_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000459.4(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_001025203.1(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427
NM_001025203.1(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_001025203.1(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_001025203.1(U2AF1):c.470A>G (p.Gln157Arg) rs371246226
NM_001126112.2(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_001126112.2(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_001126112.2(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_001126112.2(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_001126112.2(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_001126112.2(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_001126112.2(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_001126112.2(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.535C>G (p.His179Asp) rs587780070
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.537T>G (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.577C>A (p.His193Asn) rs876658468
NM_001126112.2(TP53):c.577C>G (p.His193Asp) rs876658468
NM_001126112.2(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_001126112.2(TP53):c.578A>C (p.His193Pro) rs786201838
NM_001126112.2(TP53):c.578A>G (p.His193Arg) rs786201838
NM_001126112.2(TP53):c.578A>T (p.His193Leu) rs786201838
NM_001126112.2(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001126112.2(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_001126112.2(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_001126112.2(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_001126112.2(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_001126112.2(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_001126112.2(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001126112.2(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_001126112.2(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_001126112.2(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_001126112.2(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_001126112.2(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126112.2(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
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.358A>G (p.Arg120Gly) rs1057519906
NM_001289910.1(IDH2):c.358A>T (p.Arg120Trp) rs1057519906
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_001754.4(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.4(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.4(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002520.6(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_004119.2(FLT3):c.1715A>G (p.Tyr572Cys) rs121913491
NM_004119.2(FLT3):c.1736T>C (p.Val579Ala) rs1057520022
NM_004119.2(FLT3):c.1771T>G (p.Tyr591Asp) rs1057520043
NM_004119.2(FLT3):c.1772A>G (p.Tyr591Cys) rs1057520024
NM_004119.2(FLT3):c.1775T>C (p.Val592Ala) rs1057520025
NM_004119.2(FLT3):c.1780T>C (p.Phe594Leu) rs1057520021
NM_004119.2(FLT3):c.1855G>T (p.Gly619Cys) rs1057519769
NM_004119.2(FLT3):c.1952A>G (p.Asp651Gly) rs1057519768
NM_004119.2(FLT3):c.1987A>C (p.Lys663Gln) rs1057520026
NM_004119.2(FLT3):c.2026A>G (p.Asn676Asp) rs1057519767
NM_004119.2(FLT3):c.2028C>A (p.Asn676Lys) rs1057519766
NM_004119.2(FLT3):c.2028C>G (p.Asn676Lys) rs1057519766
NM_004119.2(FLT3):c.2059A>T (p.Ile687Phe) rs1057519765
NM_004119.2(FLT3):c.2073T>A (p.Phe691Leu) rs1057519764
NM_004119.2(FLT3):c.2073T>G (p.Phe691Leu) rs1057519764
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_2504delinsTT (p.Asp835Phe) rs1057519763
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.2506A>G (p.Ile836Val) rs1057519726
NM_004119.2(FLT3):c.2506A>T (p.Ile836Phe) rs1057519726
NM_004119.2(FLT3):c.2507T>G (p.Ile836Ser) rs1057520023
NM_004119.2(FLT3):c.2508C>G (p.Ile836Met) rs121913232
NM_004119.2(FLT3):c.2508_2510del (p.Ile836del) rs121913490
NM_004119.2(FLT3):c.2516A>G (p.Asp839Gly) rs991132188
NM_004119.2(FLT3):c.2521A>C (p.Asn841His) rs772061268
NM_004119.2(FLT3):c.2523C>A (p.Asn841Lys) rs749281035
NM_004119.2(FLT3):c.2524T>C (p.Tyr842His) rs1057519762
NM_004119.2(FLT3):c.2525A>G (p.Tyr842Cys) rs376588714
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_012433.3(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.3(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.3(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186
NM_012433.3(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.3(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155
NM_012433.3(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.3(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.3(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.3(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.3(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.3(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs) rs1057519745
NM_033360.4(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_033360.4(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033360.4(KRAS):c.38G>A (p.Gly13Asp) rs112445441
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

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