ClinVar Miner

List of variants in gene KMT2D reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 287
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.10021C>T (p.Gln3341Ter)
NM_003482.4(KMT2D):c.1002del (p.Asn336fs)
NM_003482.4(KMT2D):c.10090C>T (p.Gln3364Ter) rs1210590639
NM_003482.4(KMT2D):c.10232-1G>A
NM_003482.4(KMT2D):c.10356-12G>A rs1555189467
NM_003482.4(KMT2D):c.10357C>T (p.Gln3453Ter) rs1943129966
NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter) rs1555189450
NM_003482.4(KMT2D):c.10440+2T>G rs1555189421
NM_003482.4(KMT2D):c.10502T>G (p.Val3501Gly) rs1565781216
NM_003482.4(KMT2D):c.10507+4A>G rs2120456590
NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro) rs1555189307
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10615C>T (p.Arg3539Trp)
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)
NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs) rs1592123162
NM_003482.4(KMT2D):c.10653_10654insT (p.Ala3552fs) rs1943097701
NM_003482.4(KMT2D):c.10653dup (p.Ala3552fs) rs763440821
NM_003482.4(KMT2D):c.10690C>G (p.Leu3564Val)
NM_003482.4(KMT2D):c.10690C>T (p.Leu3564Phe) rs2120452029
NM_003482.4(KMT2D):c.10706A>G (p.Glu3569Gly)
NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=) rs398123700
NM_003482.4(KMT2D):c.10741-23_10741-2del
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln) rs2120449499
NM_003482.4(KMT2D):c.10763A>G (p.His3588Arg)
NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys) rs1555189207
NM_003482.4(KMT2D):c.10957G>T (p.Gly3653Ter)
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_003482.4(KMT2D):c.1112+1G>C
NM_003482.4(KMT2D):c.11138C>G (p.Ser3713Ter)
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter) rs786205478
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.4(KMT2D):c.1143del (p.Thr382fs) rs1064796125
NM_003482.4(KMT2D):c.11456del (p.Gly3819fs) rs1555188687
NM_003482.4(KMT2D):c.11472_11473del (p.His3824fs) rs1555188670
NM_003482.4(KMT2D):c.11635_11636del (p.Leu3880fs) rs1555188561
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11710C>T (p.Gln3904Ter) rs1555188537
NM_003482.4(KMT2D):c.11739del (p.Gln3913fs) rs1555188520
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.4(KMT2D):c.11746C>T (p.Gln3916Ter)
NM_003482.4(KMT2D):c.11766_11825del (p.Leu3926_Gln3945del) rs2120435996
NM_003482.4(KMT2D):c.11787del (p.Gln3929fs) rs1943014403
NM_003482.4(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter) rs1555188469
NM_003482.4(KMT2D):c.11848C>T (p.Gln3950Ter) rs1555188430
NM_003482.4(KMT2D):c.11897_11911del (p.Phe3966_Gln3971delinsTer) rs1592119138
NM_003482.4(KMT2D):c.12039_12046del (p.Ala4014fs) rs2120433403
NM_003482.4(KMT2D):c.12231dup (p.Val4078fs) rs1942968938
NM_003482.4(KMT2D):c.1223_1229dup (p.Pro411fs) rs1938142007
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.12291del (p.Pro4098fs) rs2120431099
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.12546dup (p.Gln4183fs) rs1555188026
NM_003482.4(KMT2D):c.1258+5G>A rs2120689175
NM_003482.4(KMT2D):c.1259-14T>A rs199555464
NM_003482.4(KMT2D):c.125C>T (p.Ser42Phe) rs1555198886
NM_003482.4(KMT2D):c.12688C>T (p.Gln4230Ter) rs793888511
NM_003482.4(KMT2D):c.12735_12748del (p.Glu4245fs)
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.12902_12903insA (p.Leu4302fs) rs2120424870
NM_003482.4(KMT2D):c.12946G>T (p.Glu4316Ter) rs2120423939
NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer) rs398123715
NM_003482.4(KMT2D):c.13026_13027dup (p.Thr4343fs) rs1555187741
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.13156_13163del (p.Thr4386fs)
NM_003482.4(KMT2D):c.13213C>T (p.Gln4405Ter) rs1555187575
NM_003482.4(KMT2D):c.13293del (p.Lys4432fs) rs1942904526
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13346del (p.Leu4449fs) rs1555187485
NM_003482.4(KMT2D):c.13367C>G (p.Ser4456Ter) rs1555187461
NM_003482.4(KMT2D):c.13378_13379insCA (p.His4460fs) rs1555187452
NM_003482.4(KMT2D):c.13650del (p.Leu4551fs) rs1942874047
NM_003482.4(KMT2D):c.13651_15785-305del
NM_003482.4(KMT2D):c.13660C>T (p.Gln4554Ter) rs1942873615
NM_003482.4(KMT2D):c.1395dup (p.Arg466fs) rs1565820584
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.14000-3C>G rs1355372507
NM_003482.4(KMT2D):c.14020_14030delinsA (p.Leu4674fs) rs1942777752
NM_003482.4(KMT2D):c.14055_14056del (p.His4685fs) rs1555186627
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14076-2A>C rs1592110749
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.14249del (p.Pro4750fs) rs1942753340
NM_003482.4(KMT2D):c.14382+1G>A rs1555186428
NM_003482.4(KMT2D):c.14382+1G>C rs1555186428
NM_003482.4(KMT2D):c.14417_14424del (p.Leu4806fs)
NM_003482.4(KMT2D):c.14469del (p.Ala4824fs) rs1555186257
NM_003482.4(KMT2D):c.14502dup (p.Ala4835fs) rs2120378003
NM_003482.4(KMT2D):c.14515+1G>A rs1555186232
NM_003482.4(KMT2D):c.14515+1G>T rs1555186232
NM_003482.4(KMT2D):c.14659G>T (p.Glu4887Ter) rs793888513
NM_003482.4(KMT2D):c.14669_14672del (p.Thr4890fs) rs1555186087
NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.4(KMT2D):c.14722del (p.Ala4908fs) rs1555186044
NM_003482.4(KMT2D):c.14732C>T (p.Pro4911Leu) rs183347186
NM_003482.4(KMT2D):c.14833delinsAA (p.Pro4945fs) rs1555185978
NM_003482.4(KMT2D):c.14873C>G (p.Ser4958Ter) rs1942637043
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15089G>A (p.Arg5030His) rs1592105909
NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser) rs398123723
NM_003482.4(KMT2D):c.15110AGG[1] (p.Glu5038del) rs1942619753
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15157GACCTG[1] (p.5053DL[1]) rs398123725
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.15171G>A (p.Trp5057Ter) rs1942616266
NM_003482.4(KMT2D):c.15176A>G (p.His5059Arg) rs1942615651
NM_003482.4(KMT2D):c.15185G>C (p.Cys5062Ser)
NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro) rs398123726
NM_003482.4(KMT2D):c.15235_15238del (p.Asn5079fs) rs793888514
NM_003482.4(KMT2D):c.15275G>T (p.Cys5092Phe) rs1942609986
NM_003482.4(KMT2D):c.15284G>C (p.Cys5095Ser)
NM_003482.4(KMT2D):c.15286C>T (p.Gln5096Ter) rs1555185817
NM_003482.4(KMT2D):c.15311G>T (p.Cys5104Phe) rs2120361380
NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro) rs1565759674
NM_003482.4(KMT2D):c.15397T>C (p.Cys5133Arg) rs2120360235
NM_003482.4(KMT2D):c.15458G>A (p.Arg5153Gln)
NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp)
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15467A>G (p.Tyr5156Cys) rs769483933
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15536G>C (p.Arg5179Pro) rs267607237
NM_003482.4(KMT2D):c.15536G>T (p.Arg5179Leu) rs267607237
NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg) rs1942591901
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.15583C>T (p.Gln5195Ter) rs1555185699
NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys) rs1942587772
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003482.4(KMT2D):c.15731_15732del (p.Lys5244fs) rs1555185610
NM_003482.4(KMT2D):c.15785-10T>G rs1555185358
NM_003482.4(KMT2D):c.15854C>G (p.Pro5285Arg) rs1555185337
NM_003482.4(KMT2D):c.15920_15921insT (p.Leu5308fs) rs1555185301
NM_003482.4(KMT2D):c.15921+1G>A rs1555185299
NM_003482.4(KMT2D):c.15922-1G>A
NM_003482.4(KMT2D):c.15922-2A>G rs2137710791
NM_003482.4(KMT2D):c.15947del (p.Asn5316fs)
NM_003482.4(KMT2D):c.16012T>C (p.Cys5338Arg) rs1057524689
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_003482.4(KMT2D):c.16052+2T>G
NM_003482.4(KMT2D):c.16125del (p.Tyr5376fs) rs1555184893
NM_003482.4(KMT2D):c.16295G>T (p.Arg5432Leu)
NM_003482.4(KMT2D):c.16338+1G>A rs1555184782
NM_003482.4(KMT2D):c.16338+1G>T rs1555184782
NM_003482.4(KMT2D):c.16338+2T>C rs1555184777
NM_003482.4(KMT2D):c.16339-1G>C rs2137705201
NM_003482.4(KMT2D):c.16339-2A>C
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.4(KMT2D):c.16361del (p.Arg5454fs)
NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp) rs587783700
NM_003482.4(KMT2D):c.16412+2_16412+16del rs2137704696
NM_003482.4(KMT2D):c.16412+5G>C rs1942367824
NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys) rs1555184684
NM_003482.4(KMT2D):c.16413-1G>C rs793888515
NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser) rs587783702
NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr) rs1388523736
NM_003482.4(KMT2D):c.16470del (p.Glu5491fs) rs1555184624
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.16500del (p.Arg5501fs)
NM_003482.4(KMT2D):c.16521G>C (p.Glu5507Asp) rs2137703473
NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys) rs1383821738
NM_003482.4(KMT2D):c.175A>G (p.Ser59Gly) rs1555198862
NM_003482.4(KMT2D):c.1769dup (p.Met590fs) rs1565819425
NM_003482.4(KMT2D):c.177-2A>G rs2120713788
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.2110_2113delinsTC (p.Asp704fs) rs1555197101
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.2317del (p.Gln773fs) rs1565817210
NM_003482.4(KMT2D):c.2389C>G (p.Leu797Val) rs1057518680
NM_003482.4(KMT2D):c.2425dup (p.Gln809fs) rs1937976668
NM_003482.4(KMT2D):c.2515G>T (p.Glu839Ter) rs781145102
NM_003482.4(KMT2D):c.2546C>A (p.Ser849Ter) rs370492566
NM_003482.4(KMT2D):c.2578_2579del (p.Leu860fs) rs1555196742
NM_003482.4(KMT2D):c.2798-1G>A
NM_003482.4(KMT2D):c.2819C>G (p.Ser940Ter) rs1555196590
NM_003482.4(KMT2D):c.296del (p.Pro99fs) rs1938292099
NM_003482.4(KMT2D):c.2T>C (p.Met1Thr) rs1057520167
NM_003482.4(KMT2D):c.3019_3020del (p.Ser1007fs) rs1555196459
NM_003482.4(KMT2D):c.3220G>T (p.Glu1074Ter)
NM_003482.4(KMT2D):c.4130A>C (p.Gln1377Pro) rs1555195573
NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=) rs764942
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4138T>C (p.Cys1380Arg) rs2120621227
NM_003482.4(KMT2D):c.4139G>T (p.Cys1380Phe)
NM_003482.4(KMT2D):c.4171G>A (p.Glu1391Lys) rs1937658910
NM_003482.4(KMT2D):c.4198T>C (p.Cys1400Arg)
NM_003482.4(KMT2D):c.4214A>G (p.His1405Arg) rs1565809463
NM_003482.4(KMT2D):c.4222T>G (p.Cys1408Gly) rs1555195432
NM_003482.4(KMT2D):c.4237-2A>G rs797045001
NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter) rs1555198640
NM_003482.4(KMT2D):c.4262G>A (p.Gly1421Asp) rs1565807707
NM_003482.4(KMT2D):c.4267C>A (p.Arg1423Ser)
NM_003482.4(KMT2D):c.4280G>A (p.Cys1427Tyr) rs1555195158
NM_003482.4(KMT2D):c.4344_4345del (p.Cys1448_Asp1449delinsTer) rs1064797168
NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln) rs767737749
NM_003482.4(KMT2D):c.4379dup (p.Leu1461fs) rs1240601136
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4419-2A>C
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.4520G>A (p.Cys1507Tyr) rs1943783240
NM_003482.4(KMT2D):c.4710del (p.Glu1571fs) rs1555194822
NM_003482.4(KMT2D):c.4741+257_6959del
NM_003482.4(KMT2D):c.474_475del (p.Cys158fs) rs1555198590
NM_003482.4(KMT2D):c.4762G>T (p.Glu1588Ter) rs1290729871
NM_003482.4(KMT2D):c.4771_4772del (p.Trp1591fs)
NM_003482.4(KMT2D):c.49+1del rs1565826250
NM_003482.4(KMT2D):c.49+2T>A rs767591619
NM_003482.4(KMT2D):c.4963+1G>T
NM_003482.4(KMT2D):c.4981del (p.Glu1661fs) rs797045667
NM_003482.4(KMT2D):c.4987G>T (p.Glu1663Ter) rs192216625
NM_003482.4(KMT2D):c.50-1G>T rs1555198921
NM_003482.4(KMT2D):c.5058dup (p.Arg1687fs) rs1555194303
NM_003482.4(KMT2D):c.510+2T>C
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5135_5136del (p.Lys1712fs) rs1555194236
NM_003482.4(KMT2D):c.5166del (p.Ser1722fs) rs367537992
NM_003482.4(KMT2D):c.5189-1G>C rs2120577091
NM_003482.4(KMT2D):c.5227C>T (p.Gln1743Ter) rs1943663823
NM_003482.4(KMT2D):c.5319+1G>A rs1057520722
NM_003482.4(KMT2D):c.543dup (p.Ile182fs) rs1938252967
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.4(KMT2D):c.5597del (p.Pro1866fs) rs1555193755
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.571C>T (p.Arg191Trp) rs1555198522
NM_003482.4(KMT2D):c.5868-1G>A rs867333942
NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.4(KMT2D):c.5983G>T (p.Gly1995Ter) rs1393276376
NM_003482.4(KMT2D):c.6002G>A (p.Arg2001Gln)
NM_003482.4(KMT2D):c.6040C>T (p.Gln2014Ter) rs1943567949
NM_003482.4(KMT2D):c.6109G>C (p.Asp2037His) rs2120552716
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.4(KMT2D):c.6302C>T (p.Ala2101Val) rs1943527215
NM_003482.4(KMT2D):c.6354dup (p.Ala2119fs) rs755159728
NM_003482.4(KMT2D):c.6594dup (p.Tyr2199fs) rs1555192751
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6805_6811del (p.Ser2269fs)
NM_003482.4(KMT2D):c.6844del (p.Arg2282fs) rs1555192531
NM_003482.4(KMT2D):c.6955dup (p.Leu2319fs) rs1555192457
NM_003482.4(KMT2D):c.6966dup (p.Thr2323fs) rs1555192451
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.4(KMT2D):c.702del (p.Pro235fs) rs1555198318
NM_003482.4(KMT2D):c.709G>T (p.Glu237Ter) rs1159611979
NM_003482.4(KMT2D):c.70G>T (p.Glu24Ter) rs1555198910
NM_003482.4(KMT2D):c.7282del (p.Arg2428fs) rs1555192218
NM_003482.4(KMT2D):c.7291_7294del (p.Ser2431fs) rs1555192210
NM_003482.4(KMT2D):c.7426G>T (p.Glu2476Ter) rs1555192113
NM_003482.4(KMT2D):c.7479dup (p.Phe2494fs) rs1555192051
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.4(KMT2D):c.7644del (p.Lys2548fs)
NM_003482.4(KMT2D):c.7939G>A (p.Asp2647Asn) rs2120517648
NM_003482.4(KMT2D):c.8003_8007del (p.Gly2668fs)
NM_003482.4(KMT2D):c.8027_8028del (p.Glu2676fs) rs1555191665
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.4(KMT2D):c.8104C>T (p.Gln2702Ter) rs2120512857
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8350_8351del (p.Met2784fs) rs1555191324
NM_003482.4(KMT2D):c.8366+2T>C rs1943368267
NM_003482.4(KMT2D):c.8366G>A (p.Arg2789Gln)
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003482.4(KMT2D):c.839G>A (p.Arg280Lys)
NM_003482.4(KMT2D):c.840-2A>G rs1555198201
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.4(KMT2D):c.8443dup (p.Gln2815fs) rs1943354251
NM_003482.4(KMT2D):c.8453G>A (p.Trp2818Ter)
NM_003482.4(KMT2D):c.8474_8477dup (p.Thr2827fs) rs1555191177
NM_003482.4(KMT2D):c.8516C>G (p.Ser2839Ter) rs1555191147
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter) rs1592159924
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.8845dup (p.Thr2949fs) rs2120499187
NM_003482.4(KMT2D):c.8859_8861delinsCA (p.Lys2953fs) rs1555190907
NM_003482.4(KMT2D):c.8952del (p.Lys2985fs) rs1555190806
NM_003482.4(KMT2D):c.9145C>G (p.Leu3049Val) rs1051646314
NM_003482.4(KMT2D):c.9306del (p.Ala3103fs) rs1555190635
NM_003482.4(KMT2D):c.9417del (p.Lys3140fs) rs1555190550
NM_003482.4(KMT2D):c.9595del (p.Ser3199fs) rs1555190391
NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512

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