ClinVar Miner

List of variants in gene KMT2A reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 297
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.10835+1G>C rs141515578 0.00004
NC_000011.9:g.(?_118359309)_(118359495_?)del
NC_000011.9:g.(?_118390313)_(118390799_?)del
NM_001197104.1:c.(4332+1_4333-1)_(6505+1_6506-1)del
NM_001197104.2(KMT2A):c.10023dup (p.Ser3342fs) rs2134409465
NM_001197104.2(KMT2A):c.10051del (p.Thr3351fs)
NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs) rs2134409720
NM_001197104.2(KMT2A):c.10139C>G (p.Ser3380Ter) rs1064797024
NM_001197104.2(KMT2A):c.10153_10154del (p.Leu3385fs) rs1950576481
NM_001197104.2(KMT2A):c.10171C>T (p.Gln3391Ter) rs1555048203
NM_001197104.2(KMT2A):c.10217C>A (p.Ser3406Ter) rs886039658
NM_001197104.2(KMT2A):c.10322del (p.Thr3441fs) rs1950580068
NM_001197104.2(KMT2A):c.10334dup (p.Ser3446fs) rs863224888
NM_001197104.2(KMT2A):c.10376del (p.Asn3459fs) rs1591286581
NM_001197104.2(KMT2A):c.1038del (p.Val347fs) rs1555035779
NM_001197104.2(KMT2A):c.10463dup (p.Thr3489fs)
NM_001197104.2(KMT2A):c.10498C>T (p.Gln3500Ter)
NM_001197104.2(KMT2A):c.10525C>T (p.Gln3509Ter)
NM_001197104.2(KMT2A):c.10550dup (p.Ser3518fs) rs1591286958
NM_001197104.2(KMT2A):c.10608del (p.Thr3537fs)
NM_001197104.2(KMT2A):c.1065del (p.Lys356fs)
NM_001197104.2(KMT2A):c.10754+1G>A
NM_001197104.2(KMT2A):c.10786dup (p.Thr3596fs) rs2134419405
NM_001197104.2(KMT2A):c.10816G>T (p.Glu3606Ter) rs1950607117
NM_001197104.2(KMT2A):c.11001dup (p.Pro3668fs) rs1591292118
NM_001197104.2(KMT2A):c.11031del (p.Ser3678fs)
NM_001197104.2(KMT2A):c.1104_1114dup (p.Ala372fs) rs2134260133
NM_001197104.2(KMT2A):c.11071+1G>A rs1555049702
NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs) rs1949956477
NM_001197104.2(KMT2A):c.1147del (p.Ala383fs)
NM_001197104.2(KMT2A):c.126del (p.Pro45fs)
NM_001197104.2(KMT2A):c.1274del (p.Pro425fs) rs2134260983
NM_001197104.2(KMT2A):c.1274dup (p.Arg426fs)
NM_001197104.2(KMT2A):c.134del (p.Pro45fs) rs1555138529
NM_001197104.2(KMT2A):c.1395_1396insG (p.Ser466fs) rs1949960915
NM_001197104.2(KMT2A):c.1470_1471del (p.Gln491fs) rs1591374532
NM_001197104.2(KMT2A):c.1522G>T (p.Glu508Ter) rs781978013
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs) rs2134153013
NM_001197104.2(KMT2A):c.1652dup (p.Ser551fs) rs2134263239
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter) rs1949967549
NM_001197104.2(KMT2A):c.166_167insA (p.Ser56fs) rs1949187852
NM_001197104.2(KMT2A):c.1700del (p.Thr567fs)
NM_001197104.2(KMT2A):c.1704dup (p.Pro569fs) rs2134263745
NM_001197104.2(KMT2A):c.173del (p.Pro58fs) rs1555138552
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs) rs1555138552
NM_001197104.2(KMT2A):c.1822C>T (p.Arg608Ter) rs1949970237
NM_001197104.2(KMT2A):c.1837C>T (p.Arg613Ter) rs2134264638
NM_001197104.2(KMT2A):c.1844del (p.Pro615fs) rs1591374984
NM_001197104.2(KMT2A):c.1868del (p.Lys623fs) rs797044937
NM_001197104.2(KMT2A):c.1901C>T (p.Ser634Leu)
NM_001197104.2(KMT2A):c.1975G>T (p.Glu659Ter) rs374545538
NM_001197104.2(KMT2A):c.2033_2039del (p.Leu678fs) rs2134265865
NM_001197104.2(KMT2A):c.2068dup (p.Met690fs) rs1555036328
NM_001197104.2(KMT2A):c.2115dup (p.Glu706Ter) rs1949975069
NM_001197104.2(KMT2A):c.2193del (p.Ser732fs) rs1555036394
NM_001197104.2(KMT2A):c.2214_2218del (p.Arg738fs) rs2134266780
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
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.2319dup (p.Ser774fs) rs1555036475
NM_001197104.2(KMT2A):c.2324_2325del (p.Ser775fs)
NM_001197104.2(KMT2A):c.2348_2349del (p.Ser783fs) rs1064793451
NM_001197104.2(KMT2A):c.2371del (p.Ala791fs)
NM_001197104.2(KMT2A):c.2388dup (p.Thr797fs) rs2134268054
NM_001197104.2(KMT2A):c.2413C>T (p.Gln805Ter) rs2134268340
NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs)
NM_001197104.2(KMT2A):c.2452A>T (p.Lys818Ter) rs2134268866
NM_001197104.2(KMT2A):c.2455C>T (p.Gln819Ter)
NM_001197104.2(KMT2A):c.2483C>G (p.Ser828Ter) rs2134269273
NM_001197104.2(KMT2A):c.2490dup (p.Ser831Ter)
NM_001197104.2(KMT2A):c.2514del (p.Trp838fs) rs1555036599
NM_001197104.2(KMT2A):c.2522del (p.Pro841fs) rs1949984032
NM_001197104.2(KMT2A):c.2541_2542del (p.Gly848fs)
NM_001197104.2(KMT2A):c.2552_2553del (p.Lys851fs) rs1949984655
NM_001197104.2(KMT2A):c.2569G>T (p.Glu857Ter) rs2134270387
NM_001197104.2(KMT2A):c.2584C>T (p.Arg862Ter)
NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter)
NM_001197104.2(KMT2A):c.2619_2620del (p.Ser873fs) rs1591376082
NM_001197104.2(KMT2A):c.2629_2630del (p.Asp877fs) rs782311054
NM_001197104.2(KMT2A):c.2629_2630dup (p.Asp877fs) rs782311054
NM_001197104.2(KMT2A):c.2635G>T (p.Glu879Ter) rs1555036663
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs) rs587783676
NM_001197104.2(KMT2A):c.2683A>T (p.Lys895Ter)
NM_001197104.2(KMT2A):c.2690C>G (p.Ser897Ter) rs2134271140
NM_001197104.2(KMT2A):c.269C>A (p.Ser90Ter)
NM_001197104.2(KMT2A):c.2787dup (p.Ala930fs)
NM_001197104.2(KMT2A):c.2813C>G (p.Ser938Ter)
NM_001197104.2(KMT2A):c.2865del (p.Val956fs) rs2134272176
NM_001197104.2(KMT2A):c.2896A>T (p.Arg966Ter) rs1555036801
NM_001197104.2(KMT2A):c.2968_2969insAGAG (p.Cys990Ter)
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001197104.2(KMT2A):c.3034C>T (p.Gln1012Ter) rs1565280934
NM_001197104.2(KMT2A):c.3063_3085del (p.Arg1022fs) rs2134273279
NM_001197104.2(KMT2A):c.308del (p.Pro103fs) rs1949193924
NM_001197104.2(KMT2A):c.3157-7_3161del rs1591379711
NM_001197104.2(KMT2A):c.3160C>T (p.Gln1054Ter)
NM_001197104.2(KMT2A):c.3178_3184delinsCTAGGCTGCAGTGAGCTGTGACTGTGCCACTGTATTGCAGCCTAGGCAACAAAGCAATC (p.Glu1060_Ser1062delinsLeuGlyCysSerGluLeuTer) rs1591379741
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) rs1555037629
NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter) rs2134282528
NM_001197104.2(KMT2A):c.3247C>T (p.Arg1083Ter) rs782451966
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3334+1G>A rs1135401764
NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter)
NM_001197104.2(KMT2A):c.3340del (p.Ser1114fs) rs1950068661
NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter) rs1555038029
NM_001197104.2(KMT2A):c.3373_3374del (p.Leu1125fs) rs1950069134
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter) rs1591381084
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs) rs2134286994
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001197104.2(KMT2A):c.3464G>T (p.Cys1155Phe)
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.3473G>C (p.Cys1158Ser) rs1131691503
NM_001197104.2(KMT2A):c.3481T>A (p.Cys1161Ser)
NM_001197104.2(KMT2A):c.3497A>C (p.Asp1166Ala) rs1950071002
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter) rs1555038111
NM_001197104.2(KMT2A):c.3557A>C (p.Lys1186Thr) rs1555038122
NM_001197104.2(KMT2A):c.3558_3559delinsTT (p.Lys1186_Gln1187delinsAsnTer) rs1131691614
NM_001197104.2(KMT2A):c.3560A>T (p.Gln1187Leu) rs886041881
NM_001197104.2(KMT2A):c.3563G>T (p.Cys1188Phe) rs2134287683
NM_001197104.2(KMT2A):c.3565T>C (p.Cys1189Arg) rs886041875
NM_001197104.2(KMT2A):c.3566G>A (p.Cys1189Tyr) rs1555038125
NM_001197104.2(KMT2A):c.3569+2T>G
NM_001197104.2(KMT2A):c.3570-2A>G rs1950106219
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter) rs1591383060
NM_001197104.2(KMT2A):c.3634+1G>A rs2134293919
NM_001197104.2(KMT2A):c.3634+2T>C rs1555038844
NM_001197104.2(KMT2A):c.3651_3652del (p.Lys1219fs) rs1555039242
NM_001197104.2(KMT2A):c.3651dup (p.Lys1218fs) rs863224887
NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs) rs1591384640
NM_001197104.2(KMT2A):c.3724C>T (p.Gln1242Ter) rs1950137753
NM_001197104.2(KMT2A):c.3757del (p.Ala1253fs)
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.3794del (p.Lys1265fs)
NM_001197104.2(KMT2A):c.3808_3809del (p.Lys1270fs)
NM_001197104.2(KMT2A):c.3889C>T (p.Gln1297Ter)
NM_001197104.2(KMT2A):c.3920dup (p.Gln1308fs) rs1950141561
NM_001197104.2(KMT2A):c.3926del (p.Pro1309fs) rs2134301341
NM_001197104.2(KMT2A):c.3933dup (p.Thr1312fs) rs1950141836
NM_001197104.2(KMT2A):c.3991C>T (p.Gln1331Ter) rs886041571
NM_001197104.2(KMT2A):c.4012+1G>C rs1555039476
NM_001197104.2(KMT2A):c.4012+2T>A rs1591385183
NM_001197104.2(KMT2A):c.4013-2A>G
NM_001197104.2(KMT2A):c.4029del (p.Lys1343fs) rs1555039606
NM_001197104.2(KMT2A):c.4032del (p.Val1347fs) rs1591385663
NM_001197104.2(KMT2A):c.4069C>T (p.Gln1357Ter)
NM_001197104.2(KMT2A):c.416dup (p.Gly140fs)
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001197104.2(KMT2A):c.4244G>A (p.Trp1415Ter)
NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter) rs1555040446
NM_001197104.2(KMT2A):c.4329dup (p.Glu1444fs)
NM_001197104.2(KMT2A):c.4331_4332dup (p.Phe1445fs) rs1555040480
NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr) rs1085307857
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.4433del (p.Arg1478fs) rs1064796711
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) rs150800017
NM_001197104.2(KMT2A):c.4532del (p.Gly1511fs) rs2134332825
NM_001197104.2(KMT2A):c.4576-1G>C rs563239
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.2(KMT2A):c.4599dup (p.Lys1534Ter) rs398122881
NM_001197104.2(KMT2A):c.4643_4644insACTCCAGGCAAAGG (p.Trp1549fs)
NM_001197104.2(KMT2A):c.4643_4646dup (p.Trp1549Ter)
NM_001197104.2(KMT2A):c.4696+1G>A rs1057519407
NM_001197104.2(KMT2A):c.4706_4707insAAACTCTCTG (p.Cys1569Ter) rs1064795340
NM_001197104.2(KMT2A):c.4777del (p.Arg1593fs)
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter) rs1591266263
NM_001197104.2(KMT2A):c.4988T>A (p.Leu1663Ter) rs1565294188
NM_001197104.2(KMT2A):c.5005-2A>G rs1555042987
NM_001197104.2(KMT2A):c.502+1G>A rs1591371152
NM_001197104.2(KMT2A):c.5116del (p.Gln1706fs) rs1064796672
NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter) rs1555035511
NM_001197104.2(KMT2A):c.5196dup (p.Ile1733fs) rs1591269240
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) rs886041896
NM_001197104.2(KMT2A):c.5256dup (p.Ala1753fs) rs2134349851
NM_001197104.2(KMT2A):c.5260A>T (p.Asn1754Tyr) rs1950371099
NM_001197104.2(KMT2A):c.5332del (p.Arg1778fs)
NM_001197104.2(KMT2A):c.5363+1G>A rs2134351311
NM_001197104.2(KMT2A):c.5419C>T (p.Gln1807Ter) rs1565296895
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001197104.2(KMT2A):c.5455C>T (p.Gln1819Ter) rs2134355176
NM_001197104.2(KMT2A):c.553C>T (p.Arg185Ter)
NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter) rs2134357027
NM_001197104.2(KMT2A):c.5621dup (p.Gln1875fs) rs1555043939
NM_001197104.2(KMT2A):c.5632_5633dup (p.Leu1878fs)
NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs)
NM_001197104.2(KMT2A):c.5656del (p.Ser1886fs) rs1950408951
NM_001197104.2(KMT2A):c.5665-2A>G
NM_001197104.2(KMT2A):c.5708_5709del (p.His1903fs)
NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter) rs1591373553
NM_001197104.2(KMT2A):c.5788del (p.Arg1930fs)
NM_001197104.2(KMT2A):c.5803-1G>A rs1555044700
NM_001197104.2(KMT2A):c.5804_5817dup (p.Gln1940fs) rs1591274900
NM_001197104.2(KMT2A):c.5822del (p.Lys1941fs) rs2134366416
NM_001197104.2(KMT2A):c.5887C>T (p.Arg1963Ter) rs1950445312
NM_001197104.2(KMT2A):c.5935C>T (p.Arg1979Ter) rs2134367981
NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=) rs1555044758
NM_001197104.2(KMT2A):c.6002_6005del (p.Phe2001fs) rs1057519408
NM_001197104.2(KMT2A):c.602_603insT (p.Lys201fs) rs1555035550
NM_001197104.2(KMT2A):c.6033_6036del (p.Arg2011fs)
NM_001197104.2(KMT2A):c.6211_6214dup (p.Cys2072fs)
NM_001197104.2(KMT2A):c.6305del (p.Pro2102fs) rs1555045506
NM_001197104.2(KMT2A):c.6305dup (p.Thr2103fs) rs1555045506
NM_001197104.2(KMT2A):c.6329C>G (p.Ser2110Ter) rs864309569
NM_001197104.2(KMT2A):c.6379C>T (p.Arg2127Ter)
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.6491del (p.Pro2164fs)
NM_001197104.2(KMT2A):c.6504del (p.Gly2169fs)
NM_001197104.2(KMT2A):c.654_679delinsTTTACT (p.Glu219fs) rs1949946887
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001197104.2(KMT2A):c.6616C>T (p.Gln2206Ter)
NM_001197104.2(KMT2A):c.6764C>A (p.Ser2255Ter) rs1064796862
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs) rs797045656
NM_001197104.2(KMT2A):c.6860C>G (p.Ser2287Ter)
NM_001197104.2(KMT2A):c.6913del (p.Ser2305fs) rs398122880
NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs) rs2134387390
NM_001197104.2(KMT2A):c.7007dup (p.Gln2337fs) rs1950523116
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) rs1950523317
NM_001197104.2(KMT2A):c.7071del (p.Ser2358fs) rs1591281225
NM_001197104.2(KMT2A):c.7124del (p.His2374_Leu2375insTer) rs1591281317
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter) rs387907275
NM_001197104.2(KMT2A):c.7150C>T (p.Gln2384Ter) rs1555046404
NM_001197104.2(KMT2A):c.7155del (p.His2385fs) rs2134389341
NM_001197104.2(KMT2A):c.7187_7191dup (p.Glu2398fs) rs1555046428
NM_001197104.2(KMT2A):c.7226_7237delinsTTATG (p.Gly2409fs) rs1591281522
NM_001197104.2(KMT2A):c.728_729del (p.Glu243fs)
NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs)
NM_001197104.2(KMT2A):c.731T>G (p.Leu244Ter) rs2134258206
NM_001197104.2(KMT2A):c.7349del (p.Leu2450fs) rs1591281736
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.7497del (p.Val2500fs) rs1555046615
NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs)
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001197104.2(KMT2A):c.7597del (p.Glu2533fs) rs2134393031
NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs) rs1591282224
NM_001197104.2(KMT2A):c.766del (p.Ile256fs) rs1565278132
NM_001197104.2(KMT2A):c.766dup (p.Ile256fs) rs1565278132
NM_001197104.2(KMT2A):c.7726_7729del (p.Pro2576fs) rs1555046764
NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs)
NM_001197104.2(KMT2A):c.7773T>A (p.Tyr2591Ter)
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.2(KMT2A):c.7841del (p.Ser2614fs) rs1950538709
NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs) rs1591282615
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter) rs1385902057
NM_001197104.2(KMT2A):c.7926del (p.Tyr2643fs) rs1950539848
NM_001197104.2(KMT2A):c.793C>T (p.Gln265Ter)
NM_001197104.2(KMT2A):c.7970_7973dup (p.Arg2659fs)
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) rs1950540436
NM_001197104.2(KMT2A):c.7990del (p.Ala2664fs) rs2134395799
NM_001197104.2(KMT2A):c.8055C>G (p.Tyr2685Ter)
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001197104.2(KMT2A):c.8136dup (p.Asp2713Ter)
NM_001197104.2(KMT2A):c.8149del (p.Ile2717fs) rs1131692268
NM_001197104.2(KMT2A):c.8185_8186del (p.Glu2728_Ser2729insTer)
NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs) rs2134397119
NM_001197104.2(KMT2A):c.8267del (p.Asn2755_Leu2756insTer) rs398122879
NM_001197104.2(KMT2A):c.8270dup (p.Ile2758fs)
NM_001197104.2(KMT2A):c.8349_8352del (p.Met2783fs)
NM_001197104.2(KMT2A):c.835_838del (p.Ser279fs) rs1949950865
NM_001197104.2(KMT2A):c.839_843del (p.Pro280fs)
NM_001197104.2(KMT2A):c.8407C>T (p.Gln2803Ter)
NM_001197104.2(KMT2A):c.8414_8418del (p.Ser2805fs) rs1591283372
NM_001197104.2(KMT2A):c.8454del (p.Ser2819fs) rs1591283456
NM_001197104.2(KMT2A):c.8570T>A (p.Leu2857Gln) rs1057520696
NM_001197104.2(KMT2A):c.865A>T (p.Lys289Ter) rs1949951589
NM_001197104.2(KMT2A):c.8767_8768del (p.Gln2923fs) rs1950551811
NM_001197104.2(KMT2A):c.8806_8809del (p.Ser2935_Val2936insTer) rs398122878
NM_001197104.2(KMT2A):c.8864_8868del (p.Ile2955fs) rs886041947
NM_001197104.2(KMT2A):c.8874_8875del (p.Lys2961fs) rs2134401291
NM_001197104.2(KMT2A):c.889del (p.Val297fs) rs1949951988
NM_001197104.2(KMT2A):c.9068del (p.Gln3023fs)
NM_001197104.2(KMT2A):c.9103C>T (p.Gln3035Ter)
NM_001197104.2(KMT2A):c.9112_9115del (p.Val3038fs) rs1555047506
NM_001197104.2(KMT2A):c.9133C>T (p.Gln3045Ter) rs1085307772
NM_001197104.2(KMT2A):c.9139C>T (p.Gln3047Ter) rs1555047532
NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs)
NM_001197104.2(KMT2A):c.9326_9330del (p.Ser3109fs)
NM_001197104.2(KMT2A):c.934_935insC (p.Ile312fs) rs1591373923
NM_001197104.2(KMT2A):c.9383del (p.Met3128fs) rs1555047647
NM_001197104.2(KMT2A):c.9436C>T (p.Gln3146Ter) rs2134405375
NM_001197104.2(KMT2A):c.9447_9450dup (p.Ser3151fs) rs2134405469
NM_001197104.2(KMT2A):c.9507del (p.Ala3170fs)
NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer) rs2134406005
NM_001197104.2(KMT2A):c.9565delinsGAAGGC (p.Ile3189fs) rs1591285040
NM_001197104.2(KMT2A):c.9629_9636del (p.Leu3210fs) rs1950565905
NM_001197104.2(KMT2A):c.9694C>T (p.Arg3232Ter) rs782690725
NM_001197104.2(KMT2A):c.9714_9735del (p.Pro3239fs) rs1950567837
NM_001197104.2(KMT2A):c.9768_9769del (p.Leu3257fs) rs1591285326
NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter) rs1950569353
NM_001197104.2(KMT2A):c.9847C>T (p.Arg3283Ter) rs2134408087
NM_001197104.2(KMT2A):c.9910_9911del (p.Leu3304fs) rs886041834
NM_001197104.2(KMT2A):c.9921del (p.Ser3308fs) rs1591285545

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.