ClinVar Miner

List of variants in gene KMT2A studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.6698C>T (p.Thr2233Ile) rs144271443 0.00206
NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn) rs149404438 0.00096
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001197104.2(KMT2A):c.10475C>T (p.Ala3492Val) rs145249825 0.00076
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro) rs142985138 0.00059
NM_001197104.2(KMT2A):c.7983G>C (p.Lys2661Asn) rs142807735 0.00036
NM_001197104.2(KMT2A):c.6185C>T (p.Thr2062Ile) rs145061625 0.00028
NM_001197104.2(KMT2A):c.7228A>G (p.Met2410Val) rs543733077 0.00027
NM_001197104.2(KMT2A):c.3634+4G>A rs367948360 0.00024
NM_001197104.2(KMT2A):c.10832C>T (p.Ala3611Val) rs150112908 0.00014
NM_001197104.2(KMT2A):c.7787T>C (p.Val2596Ala) rs781809969 0.00013
NM_001197104.2(KMT2A):c.3700G>A (p.Val1234Met) rs374632181 0.00012
NM_001197104.2(KMT2A):c.10591C>G (p.Pro3531Ala) rs199656572 0.00011
NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr) rs142658261 0.00011
NM_001197104.2(KMT2A):c.10803G>C (p.Gln3601His) rs528682281 0.00010
NM_001197104.2(KMT2A):c.743A>G (p.Asn248Ser) rs147272445 0.00010
NM_001197104.2(KMT2A):c.260C>T (p.Ser87Leu) rs868991793 0.00009
NM_001197104.2(KMT2A):c.7054G>A (p.Gly2352Ser) rs201869352 0.00009
NM_001197104.2(KMT2A):c.10297C>A (p.Pro3433Thr) rs143780031 0.00008
NM_001197104.2(KMT2A):c.6646A>G (p.Met2216Val) rs527501404 0.00008
NM_001197104.2(KMT2A):c.7307G>A (p.Cys2436Tyr) rs145028869 0.00006
NM_001197104.2(KMT2A):c.10609A>G (p.Thr3537Ala) rs782816466 0.00005
NM_001197104.2(KMT2A):c.2317C>G (p.Pro773Ala) rs199922480 0.00005
NM_001197104.2(KMT2A):c.2401C>T (p.His801Tyr) rs375240261 0.00005
NM_001197104.2(KMT2A):c.2557A>G (p.Lys853Glu) rs377739026 0.00005
NM_001197104.2(KMT2A):c.6700G>A (p.Gly2234Arg) rs782272214 0.00005
NM_001197104.2(KMT2A):c.7804A>G (p.Met2602Val) rs781830267 0.00005
NM_001197104.2(KMT2A):c.9514A>G (p.Thr3172Ala) rs782359762 0.00005
NM_001197104.2(KMT2A):c.3799G>A (p.Val1267Ile) rs376303494 0.00004
NM_001197104.2(KMT2A):c.7004C>T (p.Ala2335Val) rs188435877 0.00004
NM_001197104.2(KMT2A):c.7147G>A (p.Asp2383Asn) rs376579850 0.00004
NM_001197104.2(KMT2A):c.10441C>A (p.Pro3481Thr) rs782107354 0.00003
NM_001197104.2(KMT2A):c.1508G>A (p.Arg503Gln) rs782313746 0.00003
NM_001197104.2(KMT2A):c.3830C>T (p.Ser1277Leu) rs782070742 0.00003
NM_001197104.2(KMT2A):c.7561C>T (p.Arg2521Cys) rs540886080 0.00003
NM_001197104.2(KMT2A):c.9695G>A (p.Arg3232Gln) rs1052748793 0.00003
NM_001197104.2(KMT2A):c.9846C>G (p.His3282Gln) rs782702303 0.00003
NM_001197104.2(KMT2A):c.10798G>A (p.Glu3600Lys) rs782210632 0.00002
NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe) rs374005016 0.00002
NM_001197104.2(KMT2A):c.2825G>A (p.Gly942Glu) rs144235455 0.00002
NM_001197104.2(KMT2A):c.3907C>G (p.Leu1303Val) rs782491835 0.00002
NM_001197104.2(KMT2A):c.5056C>T (p.Arg1686Cys) rs377724112 0.00002
NM_001197104.2(KMT2A):c.5527C>T (p.Pro1843Ser) rs782527592 0.00002
NM_001197104.2(KMT2A):c.5573G>A (p.Arg1858Gln) rs377588214 0.00002
NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys) rs782483583 0.00002
NM_001197104.2(KMT2A):c.6793A>C (p.Thr2265Pro) rs782707495 0.00002
NM_001197104.2(KMT2A):c.7453G>C (p.Val2485Leu) rs781819293 0.00002
NM_001197104.2(KMT2A):c.7772A>C (p.Tyr2591Ser) rs374420996 0.00002
NM_001197104.2(KMT2A):c.7955G>T (p.Ser2652Ile) rs782497028 0.00002
NM_001197104.2(KMT2A):c.8096G>A (p.Arg2699Gln) rs956313303 0.00002
NM_001197104.2(KMT2A):c.10007G>A (p.Gly3336Asp) rs781896383 0.00001
NM_001197104.2(KMT2A):c.10039G>A (p.Val3347Ile) rs781850448 0.00001
NM_001197104.2(KMT2A):c.10130A>G (p.Asp3377Gly) rs782811050 0.00001
NM_001197104.2(KMT2A):c.10170G>T (p.Gln3390His) rs1462963975 0.00001
NM_001197104.2(KMT2A):c.10351G>A (p.Glu3451Lys) rs139366882 0.00001
NM_001197104.2(KMT2A):c.10805C>G (p.Ser3602Cys) rs1950606826 0.00001
NM_001197104.2(KMT2A):c.11002C>A (p.Pro3668Thr) rs1479477078 0.00001
NM_001197104.2(KMT2A):c.1337C>T (p.Thr446Ile) rs1378747097 0.00001
NM_001197104.2(KMT2A):c.173C>T (p.Pro58Leu) rs1266857910 0.00001
NM_001197104.2(KMT2A):c.1961C>T (p.Pro654Leu) rs782450420 0.00001
NM_001197104.2(KMT2A):c.2056A>G (p.Thr686Ala) rs782026566 0.00001
NM_001197104.2(KMT2A):c.2702G>A (p.Ser901Asn) rs782818853 0.00001
NM_001197104.2(KMT2A):c.3752A>T (p.Asp1251Val) rs546537348 0.00001
NM_001197104.2(KMT2A):c.3763A>G (p.Lys1255Glu) rs782739484 0.00001
NM_001197104.2(KMT2A):c.3826G>A (p.Val1276Ile) rs781925449 0.00001
NM_001197104.2(KMT2A):c.3962A>G (p.Lys1321Arg) rs1950142339 0.00001
NM_001197104.2(KMT2A):c.4807T>C (p.Ser1603Pro) rs139123379 0.00001
NM_001197104.2(KMT2A):c.5256A>C (p.Lys1752Asn) rs1555043352 0.00001
NM_001197104.2(KMT2A):c.5449A>G (p.Thr1817Ala) rs1350646662 0.00001
NM_001197104.2(KMT2A):c.554G>A (p.Arg185Gln) rs782442429 0.00001
NM_001197104.2(KMT2A):c.65G>C (p.Gly22Ala) rs1555138487 0.00001
NM_001197104.2(KMT2A):c.6737T>C (p.Val2246Ala) rs139450035 0.00001
NM_001197104.2(KMT2A):c.680C>A (p.Thr227Asn) rs1385508131 0.00001
NM_001197104.2(KMT2A):c.6906G>C (p.Lys2302Asn) rs782151492 0.00001
NM_001197104.2(KMT2A):c.7091C>G (p.Ser2364Cys) rs781911944 0.00001
NM_001197104.2(KMT2A):c.7145G>A (p.Arg2382Gln) rs782199472 0.00001
NM_001197104.2(KMT2A):c.7252A>G (p.Asn2418Asp) rs782542236 0.00001
NM_001197104.2(KMT2A):c.7319T>A (p.Phe2440Tyr) rs781927823 0.00001
NM_001197104.2(KMT2A):c.7337G>A (p.Ser2446Asn) rs1278034627 0.00001
NM_001197104.2(KMT2A):c.7505A>G (p.Lys2502Arg) rs150412512 0.00001
NM_001197104.2(KMT2A):c.7552C>T (p.Pro2518Ser) rs979762842 0.00001
NM_001197104.2(KMT2A):c.779C>T (p.Pro260Leu) rs1376699515 0.00001
NM_001197104.2(KMT2A):c.8432G>A (p.Arg2811His) rs782705469 0.00001
NM_001197104.2(KMT2A):c.8669G>A (p.Arg2890His) rs782765039 0.00001
NM_001197104.2(KMT2A):c.9751G>A (p.Val3251Met) rs782171210 0.00001
NM_001197104.2(KMT2A):c.1001A>C (p.Lys334Thr) rs2496795096
NM_001197104.2(KMT2A):c.10045A>G (p.Met3349Val) rs1950574083
NM_001197104.2(KMT2A):c.1030G>A (p.Asp344Asn)
NM_001197104.2(KMT2A):c.1031A>G (p.Asp344Gly) rs892601475
NM_001197104.2(KMT2A):c.10574G>A (p.Gly3525Glu) rs1555048483
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln) rs147844226
NM_001197104.2(KMT2A):c.10718C>T (p.Pro3573Leu) rs1555048572
NM_001197104.2(KMT2A):c.10754+1G>A rs2497034097
NM_001197104.2(KMT2A):c.1144G>A (p.Gly382Arg) rs2496796499
NM_001197104.2(KMT2A):c.121C>T (p.Pro41Ser) rs1224934712
NM_001197104.2(KMT2A):c.1312A>G (p.Ile438Val)
NM_001197104.2(KMT2A):c.1340C>T (p.Pro447Leu) rs1555035918
NM_001197104.2(KMT2A):c.134del (p.Pro45fs) rs1555138529
NM_001197104.2(KMT2A):c.140G>A (p.Gly47Asp) rs2497098355
NM_001197104.2(KMT2A):c.1486A>C (p.Ile496Leu) rs782591851
NM_001197104.2(KMT2A):c.1522G>T (p.Glu508Ter) rs781978013
NM_001197104.2(KMT2A):c.1543A>T (p.Ile515Phe)
NM_001197104.2(KMT2A):c.154G>C (p.Gly52Arg) rs2134153132
NM_001197104.2(KMT2A):c.1571A>T (p.Asn524Ile)
NM_001197104.2(KMT2A):c.1589G>T (p.Arg530Met) rs1555036085
NM_001197104.2(KMT2A):c.1607G>C (p.Arg536Thr) rs1565279116
NM_001197104.2(KMT2A):c.160C>G (p.Pro54Ala) rs1431921307
NM_001197104.2(KMT2A):c.166_167insA (p.Ser56fs) rs1949187852
NM_001197104.2(KMT2A):c.172C>A (p.Pro58Thr) rs1217431375
NM_001197104.2(KMT2A):c.173del (p.Pro58fs) rs1555138552
NM_001197104.2(KMT2A):c.1868del (p.Lys623fs) rs797044937
NM_001197104.2(KMT2A):c.1975G>C (p.Glu659Gln) rs374545538
NM_001197104.2(KMT2A):c.2012G>A (p.Gly671Asp)
NM_001197104.2(KMT2A):c.2029C>G (p.Arg677Gly) rs2134265835
NM_001197104.2(KMT2A):c.208A>G (p.Ser70Gly) rs2134153761
NM_001197104.2(KMT2A):c.2193del (p.Ser732fs) rs1555036394
NM_001197104.2(KMT2A):c.2262del (p.Ser754_Met755insTer) rs1555036436
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs) rs782297546
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.2394T>G (p.Phe798Leu) rs1949981074
NM_001197104.2(KMT2A):c.2420G>A (p.Gly807Glu) rs2134268457
NM_001197104.2(KMT2A):c.254C>T (p.Ser85Phe)
NM_001197104.2(KMT2A):c.2561C>A (p.Ala854Asp) rs377416766
NM_001197104.2(KMT2A):c.256T>C (p.Ser86Pro) rs1555138683
NM_001197104.2(KMT2A):c.2584C>G (p.Arg862Gly) rs2496812832
NM_001197104.2(KMT2A):c.2717_2723del (p.Tyr906fs)
NM_001197104.2(KMT2A):c.27C>A (p.Phe9Leu) rs782207243
NM_001197104.2(KMT2A):c.2903del (p.Asn968fs)
NM_001197104.2(KMT2A):c.308del (p.Pro103fs) rs1949193924
NM_001197104.2(KMT2A):c.3157G>A (p.Gly1053Ser) rs145549283
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3370C>T (p.Pro1124Ser)
NM_001197104.2(KMT2A):c.3373_3374del (p.Leu1125fs) rs1950069134
NM_001197104.2(KMT2A):c.3376G>A (p.Ala1126Thr) rs141959511
NM_001197104.2(KMT2A):c.3436G>T (p.Val1146Leu) rs781805197
NM_001197104.2(KMT2A):c.3437T>C (p.Val1146Ala) rs2496841202
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3461_3469del (p.Arg1154_Gly1156del)
NM_001197104.2(KMT2A):c.3539G>A (p.Gly1180Asp) rs1555038115
NM_001197104.2(KMT2A):c.3539G>T (p.Gly1180Val) rs1555038115
NM_001197104.2(KMT2A):c.3570-2A>G rs1950106219
NM_001197104.2(KMT2A):c.3651_3652del (p.Lys1219fs) rs1555039242
NM_001197104.2(KMT2A):c.3704A>C (p.Lys1235Thr) rs1325884084
NM_001197104.2(KMT2A):c.3724C>T (p.Gln1242Ter) rs1950137753
NM_001197104.2(KMT2A):c.3730C>A (p.Pro1244Thr) rs2496862611
NM_001197104.2(KMT2A):c.3770G>T (p.Ser1257Ile) rs988213215
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.3791G>A (p.Arg1264Gln) rs782683534
NM_001197104.2(KMT2A):c.3797C>A (p.Pro1266His)
NM_001197104.2(KMT2A):c.380G>T (p.Arg127Leu)
NM_001197104.2(KMT2A):c.3889C>T (p.Gln1297Ter) rs2134300916
NM_001197104.2(KMT2A):c.3896_3908del (p.Ser1299fs) rs2496864429
NM_001197104.2(KMT2A):c.397T>G (p.Phe133Val) rs2497103910
NM_001197104.2(KMT2A):c.4029del (p.Lys1343fs) rs1555039606
NM_001197104.2(KMT2A):c.404A>G (p.Glu135Gly) rs2134155272
NM_001197104.2(KMT2A):c.4086G>A (p.Lys1362=) rs1950151911
NM_001197104.2(KMT2A):c.409G>A (p.Gly137Ser)
NM_001197104.2(KMT2A):c.4310G>T (p.Cys1437Phe) rs1950203796
NM_001197104.2(KMT2A):c.433-2A>C
NM_001197104.2(KMT2A):c.4331_4332dup (p.Phe1445fs) rs1555040480
NM_001197104.2(KMT2A):c.4394G>A (p.Arg1465His)
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) rs150800017
NM_001197104.2(KMT2A):c.4868C>A (p.Thr1623Asn) rs782089764
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter) rs1591266263
NM_001197104.2(KMT2A):c.5113G>C (p.Asp1705His) rs2496929615
NM_001197104.2(KMT2A):c.518G>A (p.Arg173Gln) rs1949944579
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) rs886041896
NM_001197104.2(KMT2A):c.5335T>C (p.Phe1779Leu) rs1950377167
NM_001197104.2(KMT2A):c.5383G>A (p.Ala1795Thr) rs1565296868
NM_001197104.2(KMT2A):c.5656del (p.Ser1886fs) rs1950408951
NM_001197104.2(KMT2A):c.5665-2A>G rs4628712
NM_001197104.2(KMT2A):c.5704A>G (p.Thr1902Ala)
NM_001197104.2(KMT2A):c.5788del (p.Arg1930fs) rs2496958302
NM_001197104.2(KMT2A):c.5935C>T (p.Arg1979Ter) rs2134367981
NM_001197104.2(KMT2A):c.6320A>C (p.Glu2107Ala) rs1950502887
NM_001197104.2(KMT2A):c.6348del (p.Ala2117fs)
NM_001197104.2(KMT2A):c.6374C>G (p.Pro2125Arg) rs782226750
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.6504del (p.Gly2169fs) rs2496985057
NM_001197104.2(KMT2A):c.6665A>C (p.Tyr2222Ser)
NM_001197104.2(KMT2A):c.6701G>A (p.Gly2234Glu) rs2134385428
NM_001197104.2(KMT2A):c.6850G>A (p.Asp2284Asn)
NM_001197104.2(KMT2A):c.6850delinsAA (p.Asp2284fs)
NM_001197104.2(KMT2A):c.6913T>A (p.Ser2305Thr) rs1168652214
NM_001197104.2(KMT2A):c.6922G>A (p.Gly2308Arg) rs2496992395
NM_001197104.2(KMT2A):c.7096G>A (p.Glu2366Lys)
NM_001197104.2(KMT2A):c.7097A>C (p.Glu2366Ala) rs1555046355
NM_001197104.2(KMT2A):c.7124T>G (p.Leu2375Trp) rs1555046385
NM_001197104.2(KMT2A):c.7130G>A (p.Gly2377Glu)
NM_001197104.2(KMT2A):c.7150C>T (p.Gln2384Ter) rs1555046404
NM_001197104.2(KMT2A):c.7187_7191dup (p.Glu2398fs) rs1555046428
NM_001197104.2(KMT2A):c.7220T>G (p.Leu2407Arg)
NM_001197104.2(KMT2A):c.7267T>A (p.Ser2423Thr) rs2496997209
NM_001197104.2(KMT2A):c.7373G>A (p.Gly2458Asp) rs1367628820
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.7497del (p.Val2500fs) rs1555046615
NM_001197104.2(KMT2A):c.7560A>T (p.Lys2520Asn) rs926955759
NM_001197104.2(KMT2A):c.766del (p.Ile256fs) rs1565278132
NM_001197104.2(KMT2A):c.7676C>T (p.Thr2559Ile)
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) rs1950540436
NM_001197104.2(KMT2A):c.8046A>T (p.Leu2682Phe) rs2497005788
NM_001197104.2(KMT2A):c.835_838del (p.Ser279fs) rs1949950865
NM_001197104.2(KMT2A):c.8407C>T (p.Gln2803Ter) rs2134398464
NM_001197104.2(KMT2A):c.8424G>C (p.Glu2808Asp)
NM_001197104.2(KMT2A):c.8570T>G (p.Leu2857Arg) rs1057520696
NM_001197104.2(KMT2A):c.8683G>C (p.Gly2895Arg) rs782699640
NM_001197104.2(KMT2A):c.8878G>C (p.Glu2960Gln) rs1555047392
NM_001197104.2(KMT2A):c.8908G>A (p.Val2970Ile) rs1950553835
NM_001197104.2(KMT2A):c.890T>C (p.Val297Ala)
NM_001197104.2(KMT2A):c.9017A>G (p.His3006Arg)
NM_001197104.2(KMT2A):c.9083A>C (p.Asn3028Thr) rs2497015590
NM_001197104.2(KMT2A):c.9112_9115del (p.Val3038fs) rs1555047506
NM_001197104.2(KMT2A):c.9331G>C (p.Val3111Leu) rs781929360
NM_001197104.2(KMT2A):c.9539T>G (p.Ile3180Ser) rs2497020116
NM_001197104.2(KMT2A):c.9578C>A (p.Pro3193His)
NM_001197104.2(KMT2A):c.9713C>A (p.Ala3238Asp) rs782631753
NM_001197104.2(KMT2A):c.9808A>G (p.Ser3270Gly)
NM_001197104.2(KMT2A):c.9848G>T (p.Arg3283Leu) rs781886946
NM_001197104.2(KMT2A):c.9929G>A (p.Gly3310Glu) rs2134408695
NM_001197104.2(KMT2A):c.9935C>T (p.Thr3312Ile) rs2134408736
NM_001197104.2(KMT2A):c.9986T>A (p.Leu3329His)

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