ClinVar Miner

List of variants in gene KMT2D studied for Kabuki syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 335
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HGVS dbSNP
NM_003482.3(KMT2D):c.10090C>T (p.Gln3364Ter) rs1210590639
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.1029_1030CT[2] (p.Leu345fs)
NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met) rs35087111
NM_003482.3(KMT2D):c.10378C>T (p.Gln3460Ter) rs1555189450
NM_003482.3(KMT2D):c.10440+2T>G rs1555189421
NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814
NM_003482.3(KMT2D):c.10467G>T (p.Gln3489His) rs535351117
NM_003482.3(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253
NM_003482.3(KMT2D):c.10653dup (p.Ala3552fs) rs763440821
NM_003482.3(KMT2D):c.10810C>T (p.Gln3604Ter) rs1060499552
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) rs371444130
NM_003482.3(KMT2D):c.11044C>G (p.Gln3682Glu) rs1223171002
NM_003482.3(KMT2D):c.11093dup (p.Phe3699fs) rs35493001
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705
NM_003482.3(KMT2D):c.11202_11204GCA[8] (p.Gln3745dup) rs398123707
NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter) rs587783681
NM_003482.3(KMT2D):c.11275C>T (p.Gln3759Ter) rs863224890
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11386del (p.Gln3796fs) rs587783683
NM_003482.3(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.3(KMT2D):c.1143del (p.Thr382fs) rs1064796125
NM_003482.3(KMT2D):c.11456del (p.Gly3819fs) rs1555188687
NM_003482.3(KMT2D):c.11470_11471CA[1] (p.His3824fs) rs1555188670
NM_003482.3(KMT2D):c.11471_11474ACAG[1] (p.Gln3826fs) rs1057519067
NM_003482.3(KMT2D):c.11515C>T (p.Gln3839Ter) rs1555188653
NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.3(KMT2D):c.11568_11570GCA[6] (p.Gln3863dup) rs748986705
NM_003482.3(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258
NM_003482.3(KMT2D):c.11633_11634AG[1] (p.Leu3880fs) rs1555188561
NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.3(KMT2D):c.11710C>T (p.Gln3904Ter) rs1555188537
NM_003482.3(KMT2D):c.11717_11752del (p.3900_3905LQQQQQ[1])
NM_003482.3(KMT2D):c.11738_11740AGC[8] (p.Gln3919dup) rs1555188499
NM_003482.3(KMT2D):c.11739del (p.Gln3913fs) rs1555188520
NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.3(KMT2D):c.11770C>T (p.Gln3924Ter) rs886041106
NM_003482.3(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) rs759803583
NM_003482.3(KMT2D):c.11800C>T (p.Gln3934Ter) rs1555188469
NM_003482.3(KMT2D):c.11815C>G (p.Gln3939Glu) rs1326092141
NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter) rs797045658
NM_003482.3(KMT2D):c.11848C>T (p.Gln3950Ter) rs1555188430
NM_003482.3(KMT2D):c.11849A>G (p.Gln3950Arg) rs751367935
NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) rs180784366
NM_003482.3(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=) rs370665309
NM_003482.3(KMT2D):c.12304C>T (p.Gln4102Ter) rs1555188129
NM_003482.3(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.3(KMT2D):c.12546dup (p.Gln4183fs) rs1555188026
NM_003482.3(KMT2D):c.12566G>C (p.Gly4189Ala) rs532360713
NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.3(KMT2D):c.125C>T (p.Ser42Phe) rs1555198886
NM_003482.3(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999
NM_003482.3(KMT2D):c.12661C>T (p.Gln4221Ter) rs1060499669
NM_003482.3(KMT2D):c.12688C>T (p.Gln4230Ter) rs793888511
NM_003482.3(KMT2D):c.12697C>T (p.Gln4233Ter) rs1555187930
NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.3(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.3(KMT2D):c.12878_12893del (p.Pro4293fs) rs1565773113
NM_003482.3(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.12935C>T (p.Ser4312Phe) rs1565772915
NM_003482.3(KMT2D):c.12954_12955GA[1] (p.Arg4319fs) rs587783687
NM_003482.3(KMT2D):c.12962C>A (p.Ser4321Ter) rs587783688
NM_003482.3(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050
NM_003482.3(KMT2D):c.1301del (p.Leu434fs) rs1555197738
NM_003482.3(KMT2D):c.13026_13027dup (p.Thr4343fs) rs1555187741
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.13207_13208del (p.Asn4403fs) rs1555187577
NM_003482.3(KMT2D):c.13213C>T (p.Gln4405Ter) rs1555187575
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.3(KMT2D):c.13346del (p.Leu4449fs) rs1555187485
NM_003482.3(KMT2D):c.13367C>G (p.Ser4456Ter) rs1555187461
NM_003482.3(KMT2D):c.13378_13379insCA (p.His4460fs) rs1555187452
NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.3(KMT2D):c.13518del (p.Ser4507fs) rs587783691
NM_003482.3(KMT2D):c.13531-10T>C rs769029919
NM_003482.3(KMT2D):c.13579A>T (p.Lys4527Ter) rs267607240
NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.3(KMT2D):c.13671+10dup rs147210845
NM_003482.3(KMT2D):c.13715A>G (p.Asn4572Ser) rs777292389
NM_003482.3(KMT2D):c.13818C>G (p.Tyr4606Ter) rs1555187117
NM_003482.3(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.3(KMT2D):c.13884del (p.Thr4629fs) rs886040960
NM_003482.3(KMT2D):c.1395dup (p.Arg466fs) rs1565820584
NM_003482.3(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.3(KMT2D):c.14000-3C>G rs1355372507
NM_003482.3(KMT2D):c.14053_14054CA[1] (p.His4685fs) rs1555186627
NM_003482.3(KMT2D):c.14069_14075+1del rs1555186619
NM_003482.3(KMT2D):c.14075+1G>A rs1057516039
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.1408C>T (p.Pro470Ser) rs761594079
NM_003482.3(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.3(KMT2D):c.14469del (p.Ala4824fs) rs1555186257
NM_003482.3(KMT2D):c.14515+1G>A rs1555186232
NM_003482.3(KMT2D):c.14515+1G>T rs1555186232
NM_003482.3(KMT2D):c.14568G>A (p.Trp4856Ter) rs1565763192
NM_003482.3(KMT2D):c.14659G>T (p.Glu4887Ter) rs793888513
NM_003482.3(KMT2D):c.14669_14672del (p.Thr4890fs) rs1555186087
NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.3(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.3(KMT2D):c.14722del (p.Ala4908fs) rs1555186044
NM_003482.3(KMT2D):c.14732C>T (p.Pro4911Leu) rs183347186
NM_003482.3(KMT2D):c.14833delinsAA (p.Pro4945fs) rs1555185978
NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His) rs587783694
NM_003482.3(KMT2D):c.14843C>G (p.Ser4948Ter) rs940178682
NM_003482.3(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.3(KMT2D):c.14984C>G (p.Thr4995Ser) rs886042207
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.3(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945
NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.3(KMT2D):c.15089G>A (p.Arg5030His)
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.15195G>A (p.Trp5065Ter) rs587783696
NM_003482.3(KMT2D):c.15235_15238del (p.Asn5079fs) rs793888514
NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly) rs75031009
NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.3(KMT2D):c.15286C>T (p.Gln5096Ter) rs1555185817
NM_003482.3(KMT2D):c.15341A>C (p.His5114Pro) rs1565759674
NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser) rs79330925
NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.3(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.3(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.3(KMT2D):c.15583C>T (p.Gln5195Ter) rs1555185699
NM_003482.3(KMT2D):c.15589G>A (p.Ala5197Thr) rs1555185696
NM_003482.3(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003482.3(KMT2D):c.15641G>C (p.Arg5214Pro) rs398123729
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058
NM_003482.3(KMT2D):c.15731_15732del (p.Lys5244fs) rs1555185610
NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter) rs587783697
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.3(KMT2D):c.15902_15903del (p.Val5301fs) rs1565756561
NM_003482.3(KMT2D):c.15920_15921insT (p.Leu5308fs) rs1555185301
NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter) rs587783699
NM_003482.3(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_003482.3(KMT2D):c.16125del (p.Tyr5376fs) rs1555184893
NM_003482.3(KMT2D):c.16211C>G (p.Ser5404Cys) rs1555184837
NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.3(KMT2D):c.16338+1G>T rs1555184782
NM_003482.3(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp) rs587783700
NM_003482.3(KMT2D):c.16412+13G>A rs587783701
NM_003482.3(KMT2D):c.16413-1G>C rs793888515
NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser) rs587783702
NM_003482.3(KMT2D):c.16437del (p.Asn5480fs) rs1555184635
NM_003482.3(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.3(KMT2D):c.16470del (p.Glu5491fs) rs1555184624
NM_003482.3(KMT2D):c.16480_16482ATC[3] (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.3(KMT2D):c.176+15G>A rs1415205254
NM_003482.3(KMT2D):c.1813G>T (p.Glu605Ter) rs587783705
NM_003482.3(KMT2D):c.185C>T (p.Pro62Leu) rs371342351
NM_003482.3(KMT2D):c.1893_1919del (p.Asp632_Glu640del)
NM_003482.3(KMT2D):c.1939C>A (p.Pro647Thr) rs200106242
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.3(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.3(KMT2D):c.2110_2113delinsTC (p.Asp704fs) rs1555197101
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614
NM_003482.3(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.3(KMT2D):c.2389C>G (p.Leu797Val) rs1057518680
NM_003482.3(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746
NM_003482.3(KMT2D):c.2515G>T (p.Glu839Ter)
NM_003482.3(KMT2D):c.2546C>A (p.Ser849Ter) rs370492566
NM_003482.3(KMT2D):c.256G>T (p.Glu86Ter) rs587783708
NM_003482.3(KMT2D):c.2578_2579del (p.Leu860fs) rs1555196742
NM_003482.3(KMT2D):c.2579del (p.Leu860fs)
NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.3(KMT2D):c.2771C>T (p.Ser924Phe) rs768627183
NM_003482.3(KMT2D):c.2819C>G (p.Ser940Ter) rs1555196590
NM_003482.3(KMT2D):c.2954_2955insT (p.Pro986fs) rs797045660
NM_003482.3(KMT2D):c.2992C>T (p.Pro998Ser) rs143711798
NM_003482.3(KMT2D):c.2994del (p.Pro998_Met999insTer) rs1057519595
NM_003482.3(KMT2D):c.3019_3020del (p.Ser1007fs) rs1555196459
NM_003482.3(KMT2D):c.303del (p.Ser102fs) rs797045661
NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.3(KMT2D):c.3553C>T (p.Gln1185Ter) rs587783712
NM_003482.3(KMT2D):c.3585dup (p.Pro1196fs) rs797045662
NM_003482.3(KMT2D):c.3591del (p.Thr1198fs) rs797045663
NM_003482.3(KMT2D):c.3649dup (p.Ser1217fs) rs1555196084
NM_003482.3(KMT2D):c.3695del (p.Pro1232fs) rs587783713
NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter) rs727503987
NM_003482.3(KMT2D):c.376C>G (p.Pro126Ala) rs1311872208
NM_003482.3(KMT2D):c.3789_3790del (p.Leu1264fs) rs1555196016
NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala) rs74643880
NM_003482.3(KMT2D):c.3982C>T (p.Arg1328Trp) rs754797404
NM_003482.3(KMT2D):c.400+1G>C rs587783714
NM_003482.3(KMT2D):c.4083G>C (p.Gln1361His) rs764941
NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=) rs1368572
NM_003482.3(KMT2D):c.4130A>C (p.Gln1377Pro) rs1555195573
NM_003482.3(KMT2D):c.4131G>A (p.Gln1377=) rs764942
NM_003482.3(KMT2D):c.4131G>C (p.Gln1377His) rs764942
NM_003482.3(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.3(KMT2D):c.4160G>T (p.Gly1387Val) rs1555195461
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.4209C>A (p.Cys1403Ter) rs1555195441
NM_003482.3(KMT2D):c.4214A>G (p.His1405Arg) rs1565809463
NM_003482.3(KMT2D):c.4221del (p.Cys1408fs) rs587783715
NM_003482.3(KMT2D):c.4237-2A>C rs797045001
NM_003482.3(KMT2D):c.423G>A (p.Trp141Ter) rs1555198640
NM_003482.3(KMT2D):c.4262G>A (p.Gly1421Asp) rs1565807707
NM_003482.3(KMT2D):c.432A>G (p.Ala144=) rs1555198633
NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.3(KMT2D):c.4379del (p.Pro1460fs) rs1240601136
NM_003482.3(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.4418+5G>A rs587783717
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.3(KMT2D):c.4569C>G (p.Cys1523Trp) rs1555194993
NM_003482.3(KMT2D):c.466G>T (p.Glu156Ter) rs1057519422
NM_003482.3(KMT2D):c.4710del (p.Glu1571fs) rs1555194822
NM_003482.3(KMT2D):c.4724T>C (p.Met1575Thr) rs1555194803
NM_003482.3(KMT2D):c.472_473TG[1] (p.Cys158fs) rs1555198590
NM_003482.3(KMT2D):c.4739del (p.Pro1580fs) rs587783719
NM_003482.3(KMT2D):c.4762G>T (p.Glu1588Ter) rs1290729871
NM_003482.3(KMT2D):c.4766G>A (p.Gly1589Asp) rs1555194524
NM_003482.3(KMT2D):c.4981dup (p.Glu1661fs) rs797045667
NM_003482.3(KMT2D):c.50-1G>T rs1555198921
NM_003482.3(KMT2D):c.5058dup (p.Arg1687fs) rs1555194303
NM_003482.3(KMT2D):c.5120_5121AC[2] (p.Arg1709fs) rs886043506
NM_003482.3(KMT2D):c.5135_5136del (p.Lys1712fs) rs1555194236
NM_003482.3(KMT2D):c.5166del (p.Ser1722fs) rs367537992
NM_003482.3(KMT2D):c.5189-13G>A rs375365635
NM_003482.3(KMT2D):c.5267G>A (p.Arg1756Gln) rs908795312
NM_003482.3(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.3(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.3(KMT2D):c.5597del (p.Pro1866fs) rs1555193755
NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.3(KMT2D):c.5645-3C>T rs544332856
NM_003482.3(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455
NM_003482.3(KMT2D):c.5852del (p.Pro1951fs) rs1060499724
NM_003482.3(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.3(KMT2D):c.595_604del (p.Thr199fs)
NM_003482.3(KMT2D):c.603_604dup (p.Gly202fs) rs1555198491
NM_003482.3(KMT2D):c.6086del (p.Pro2029fs) rs587783723
NM_003482.3(KMT2D):c.6126C>A (p.Cys2042Ter) rs556669370
NM_003482.3(KMT2D):c.6171dup (p.Ala2058fs) rs797045668
NM_003482.3(KMT2D):c.6172del (p.Ala2058fs) rs797045669
NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) rs374216845
NM_003482.3(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206
NM_003482.3(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6594dup (p.Tyr2199fs) rs1555192751
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.3(KMT2D):c.6608C>T (p.Thr2203Met) rs770692765
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724
NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744
NM_003482.3(KMT2D):c.6670_6674del (p.Gly2224fs) rs587783725
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6765G>A (p.Leu2255=) rs886037915
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
NM_003482.3(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726
NM_003482.3(KMT2D):c.6844del (p.Arg2282fs) rs1555192531
NM_003482.3(KMT2D):c.6902C>T (p.Pro2301Leu) rs1565794840
NM_003482.3(KMT2D):c.6955dup (p.Leu2319fs) rs1555192457
NM_003482.3(KMT2D):c.6966dup (p.Thr2323fs) rs1555192451
NM_003482.3(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.3(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574
NM_003482.3(KMT2D):c.702del (p.Pro235fs) rs1555198318
NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582
NM_003482.3(KMT2D):c.7109G>A (p.Arg2370His) rs373234419
NM_003482.3(KMT2D):c.7136C>T (p.Ala2379Val) rs200842315
NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) rs3741625
NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108
NM_003482.3(KMT2D):c.7249T>G (p.Ser2417Ala) rs1057516188
NM_003482.3(KMT2D):c.7282del (p.Arg2428fs) rs1555192218
NM_003482.3(KMT2D):c.7287_7290TCTG[1] (p.Ser2431fs) rs1555192210
NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196
NM_003482.3(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865
NM_003482.3(KMT2D):c.7366C>T (p.Arg2456Cys) rs754060706
NM_003482.3(KMT2D):c.7426G>T (p.Glu2476Ter) rs1555192113
NM_003482.3(KMT2D):c.7451T>C (p.Leu2484Pro) rs1555192083
NM_003482.3(KMT2D):c.7479dup (p.Phe2494fs) rs1555192051
NM_003482.3(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.3(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014
NM_003482.3(KMT2D):c.7589C>T (p.Thr2530Ile) rs773982820
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.8025_8026AG[1] (p.Glu2676fs) rs1555191665
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) rs148457961
NM_003482.3(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707
NM_003482.3(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.3(KMT2D):c.8229+1G>A
NM_003482.3(KMT2D):c.8350_8351del (p.Met2784fs) rs1555191324
NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.3(KMT2D):c.8366+1G>T rs1057518149
NM_003482.3(KMT2D):c.836dup (p.Cys279fs) rs797045670
NM_003482.3(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003482.3(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.3(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273
NM_003482.3(KMT2D):c.8445_8475dup (p.Ala2826fs) rs797045671
NM_003482.3(KMT2D):c.8474_8477dup (p.Thr2827fs) rs1555191177
NM_003482.3(KMT2D):c.8506C>T (p.Arg2836Cys) rs1346754879
NM_003482.3(KMT2D):c.8516C>G (p.Ser2839Ter) rs1555191147
NM_003482.3(KMT2D):c.8579G>A (p.Arg2860His) rs377747403
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.8859_8861delinsCA (p.Lys2953fs) rs1555190907
NM_003482.3(KMT2D):c.8952del (p.Lys2985fs) rs1555190806
NM_003482.3(KMT2D):c.9002A>G (p.Lys3001Arg) rs371231725
NM_003482.3(KMT2D):c.9306del (p.Ala3103fs) rs1555190635
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_003482.3(KMT2D):c.9417del (p.Lys3140fs) rs1555190550
NM_003482.3(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062
NM_003482.3(KMT2D):c.9439G>A (p.Ala3147Thr) rs1555190514
NM_003482.3(KMT2D):c.945del (p.Ser314_Trp315insTer) rs1565822457
NM_003482.3(KMT2D):c.9540del (p.Glu3181fs) rs797045672
NM_003482.3(KMT2D):c.9595del (p.Ser3199fs) rs1555190391
NM_003482.3(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409
NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512
NM_003482.3(KMT2D):c.9964C>T (p.Gln3322Ter)

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