ClinVar Miner

List of variants in gene KMT2A reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_001197104.2(KMT2A):c.3291A>G (p.Pro1097=) rs9332783 0.00438
NM_001197104.2(KMT2A):c.6699C>T (p.Thr2233=) rs36026884 0.00207
NM_001197104.2(KMT2A):c.6698C>T (p.Thr2233Ile) rs144271443 0.00206
NM_001197104.2(KMT2A):c.10396A>G (p.Thr3466Ala) rs112678346 0.00198
NM_001197104.2(KMT2A):c.10318A>G (p.Ile3440Val) rs117099452 0.00190
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) rs142875797 0.00175
NM_001197104.2(KMT2A):c.5631G>A (p.Ala1877=) rs147764171 0.00118
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe) rs139989306 0.00101
NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn) rs149404438 0.00097
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001197104.2(KMT2A):c.6009C>T (p.Asp2003=) rs77421119 0.00086
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser) rs147014136 0.00051
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_001197104.2(KMT2A):c.3634+4G>A rs367948360 0.00024
NM_001197104.2(KMT2A):c.8632C>T (p.Leu2878=) rs150502030 0.00021
NM_001197104.2(KMT2A):c.8965G>A (p.Glu2989Lys) rs143843795 0.00019
NM_001197104.2(KMT2A):c.10746A>T (p.Ser3582=) rs9332844 0.00016
NM_001197104.2(KMT2A):c.4086+8G>C rs200865931 0.00012
NM_001197104.2(KMT2A):c.6081G>T (p.Gly2027=) rs142830885 0.00011
NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val) rs201447376 0.00011
NM_001197104.2(KMT2A):c.810T>C (p.Ile270=) rs144694397 0.00010
NM_001197104.2(KMT2A):c.6492G>A (p.Pro2164=) rs145452548 0.00009
NM_001197104.2(KMT2A):c.8650T>C (p.Leu2884=) rs9332841 0.00008
NM_001197104.2(KMT2A):c.2684A>G (p.Lys895Arg) rs200600434 0.00006
NM_001197104.2(KMT2A):c.4889G>A (p.Arg1630Gln) rs143317202 0.00005
NM_001197104.2(KMT2A):c.10984A>G (p.Ser3662Gly) rs201724738 0.00004
NM_001197104.2(KMT2A):c.1509G>C (p.Arg503=) rs374716873 0.00004
NM_001197104.2(KMT2A):c.7255G>A (p.Glu2419Lys) rs782181274 0.00004
NM_001197104.2(KMT2A):c.10690C>T (p.Arg3564Trp) rs555310772 0.00003
NM_001197104.2(KMT2A):c.7062T>C (p.Phe2354=) rs782164421 0.00003
NM_001197104.2(KMT2A):c.8784A>G (p.Leu2928=) rs782565279 0.00003
NM_001197104.2(KMT2A):c.10418G>A (p.Arg3473His) rs782670360 0.00002
NM_001197104.2(KMT2A):c.10863G>C (p.Gln3621His) rs781816624 0.00002
NM_001197104.2(KMT2A):c.10901-5A>G rs369909433 0.00002
NM_001197104.2(KMT2A):c.3907C>G (p.Leu1303Val) rs782491835 0.00002
NM_001197104.2(KMT2A):c.7772A>C (p.Tyr2591Ser) rs374420996 0.00002
NM_001197104.2(KMT2A):c.10326C>T (p.Ala3442=) rs1020726478 0.00001
NM_001197104.2(KMT2A):c.172C>T (p.Pro58Ser) rs1217431375 0.00001
NM_001197104.2(KMT2A):c.2004T>G (p.Ser668=) rs147102502 0.00001
NM_001197104.2(KMT2A):c.4147C>G (p.Leu1383Val) rs782199067 0.00001
NM_001197104.2(KMT2A):c.5754C>T (p.Asp1918=) rs555459464 0.00001
NM_001197104.2(KMT2A):c.6767G>A (p.Ser2256Asn) rs782797999 0.00001
NM_001197104.2(KMT2A):c.6894C>T (p.Asp2298=) rs782004426 0.00001
NM_001197104.2(KMT2A):c.7496G>A (p.Gly2499Glu) rs1428335461 0.00001
NM_001197104.2(KMT2A):c.8229T>A (p.Ile2743=) rs781967523 0.00001
NM_001197104.2(KMT2A):c.8432G>A (p.Arg2811His) rs782705469 0.00001
NM_001197104.2(KMT2A):c.8976G>A (p.Met2992Ile) rs781817780 0.00001
NM_001197104.2(KMT2A):c.9177G>A (p.Pro3059=) rs1054482036 0.00001
NM_001197104.2(KMT2A):c.9409G>A (p.Gly3137Arg) rs782373344 0.00001
NM_001197104.2(KMT2A):c.9948G>A (p.Ala3316=) rs782402913 0.00001
GRCh37/hg19 11q23.3(chr11:118354898-118355690)x1
NM_001197104.2(KMT2A):c.10181G>A (p.Gly3394Glu)
NM_001197104.2(KMT2A):c.10308G>C (p.Gln3436His) rs2134411634
NM_001197104.2(KMT2A):c.10417C>T (p.Arg3473Cys)
NM_001197104.2(KMT2A):c.10487T>C (p.Met3496Thr)
NM_001197104.2(KMT2A):c.10502A>C (p.Asn3501Thr)
NM_001197104.2(KMT2A):c.10813_10815del (p.Lys3605del) rs781950432
NM_001197104.2(KMT2A):c.10842C>T (p.Val3614=)
NM_001197104.2(KMT2A):c.10854G>A (p.Pro3618=)
NM_001197104.2(KMT2A):c.122C>G (p.Pro41Arg) rs1555138516
NM_001197104.2(KMT2A):c.1324C>G (p.Arg442Gly)
NM_001197104.2(KMT2A):c.153C>G (p.Pro51=)
NM_001197104.2(KMT2A):c.1602G>A (p.Ser534=)
NM_001197104.2(KMT2A):c.1704dup (p.Pro569fs) rs2134263745
NM_001197104.2(KMT2A):c.177T>G (p.Ala59=)
NM_001197104.2(KMT2A):c.1808del (p.Pro603fs) rs2134264496
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del) rs781936420
NM_001197104.2(KMT2A):c.188CGG[6] (p.Ala67dup) rs781936420
NM_001197104.2(KMT2A):c.1968A>G (p.Leu656=) rs2134265489
NM_001197104.2(KMT2A):c.2062T>A (p.Phe688Ile) rs369566552
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
NM_001197104.2(KMT2A):c.2322_2323del (p.Ser775fs) rs1555036478
NM_001197104.2(KMT2A):c.2341A>G (p.Ser781Gly)
NM_001197104.2(KMT2A):c.2413C>T (p.Gln805Ter) rs2134268340
NM_001197104.2(KMT2A):c.2470G>C (p.Ala824Pro)
NM_001197104.2(KMT2A):c.2478A>G (p.Pro826=)
NM_001197104.2(KMT2A):c.2517dup (p.Thr840fs) rs1057519149
NM_001197104.2(KMT2A):c.2641G>C (p.Glu881Gln)
NM_001197104.2(KMT2A):c.2664A>G (p.Ser888=)
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) rs1555037629
NM_001197104.2(KMT2A):c.3193G>T (p.Gly1065Ter) rs1064797162
NM_001197104.2(KMT2A):c.3248G>A (p.Arg1083Gln)
NM_001197104.2(KMT2A):c.3497A>C (p.Asp1166Ala) rs1950071002
NM_001197104.2(KMT2A):c.3545G>A (p.Arg1182His) rs782323910
NM_001197104.2(KMT2A):c.3605C>G (p.Ser1202Cys)
NM_001197104.2(KMT2A):c.3843T>C (p.Pro1281=) rs2134300585
NM_001197104.2(KMT2A):c.3942G>A (p.Pro1314=) rs1555039447
NM_001197104.2(KMT2A):c.4054A>G (p.Ser1352Gly)
NM_001197104.2(KMT2A):c.412G>A (p.Gly138Arg)
NM_001197104.2(KMT2A):c.4177dup (p.Ile1393fs) rs1591388321
NM_001197104.2(KMT2A):c.4352G>T (p.Cys1451Phe)
NM_001197104.2(KMT2A):c.4466A>G (p.His1489Arg) rs2134328344
NM_001197104.2(KMT2A):c.4479+3A>G rs1950274624
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) rs150800017
NM_001197104.2(KMT2A):c.4677C>T (p.Cys1559=) rs1429425306
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.4866C>T (p.Tyr1622=)
NM_001197104.2(KMT2A):c.4878C>G (p.Asn1626Lys)
NM_001197104.2(KMT2A):c.5171C>T (p.Thr1724Ile)
NM_001197104.2(KMT2A):c.5332del (p.Arg1778fs)
NM_001197104.2(KMT2A):c.5419C>T (p.Gln1807Ter) rs1565296895
NM_001197104.2(KMT2A):c.5493A>G (p.Lys1831=)
NM_001197104.2(KMT2A):c.6299A>G (p.His2100Arg)
NM_001197104.2(KMT2A):c.6305dup (p.Thr2103fs) rs1555045506
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001197104.2(KMT2A):c.6596G>A (p.Ser2199Asn)
NM_001197104.2(KMT2A):c.65G>C (p.Gly22Ala)
NM_001197104.2(KMT2A):c.7070C>G (p.Pro2357Arg) rs9332838
NM_001197104.2(KMT2A):c.7561C>T (p.Arg2521Cys)
NM_001197104.2(KMT2A):c.7598A>C (p.Glu2533Ala) rs1555046700
NM_001197104.2(KMT2A):c.765A>C (p.Lys255Asn) rs1555035634
NM_001197104.2(KMT2A):c.7692C>T (p.Ala2564=)
NM_001197104.2(KMT2A):c.7874G>T (p.Arg2625Leu) rs1555046870
NM_001197104.2(KMT2A):c.8096G>A (p.Arg2699Gln)
NM_001197104.2(KMT2A):c.8124G>A (p.Glu2708=) rs1024411683
NM_001197104.2(KMT2A):c.834C>G (p.Leu278=)
NM_001197104.2(KMT2A):c.8387G>T (p.Gly2796Val)
NM_001197104.2(KMT2A):c.850A>C (p.Lys284Gln)
NM_001197104.2(KMT2A):c.889del (p.Val297fs) rs1949951988
NM_001197104.2(KMT2A):c.9307C>G (p.Gln3103Glu)
NM_001197104.2(KMT2A):c.93_163del (p.Arg32fs) rs2134152451
NM_001197104.2(KMT2A):c.9629_9636del (p.Leu3210fs) rs1950565905
NM_001197104.2(KMT2A):c.973G>C (p.Glu325Gln)
NM_001197104.2(KMT2A):c.9759T>C (p.Ser3253=)
NM_001197104.2(KMT2A):c.9803A>C (p.His3268Pro)
NM_001197104.2(KMT2A):c.9910_9911del (p.Leu3304fs) rs886041834

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