ClinVar Miner

List of variants in gene KMT2D reported as pathogenic for Kabuki syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 295
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys) rs1227169455 0.00002
NM_003482.4(KMT2D):c.2994del (p.Pro998_Met999insTer) rs1057519595 0.00001
NM_003482.4(KMT2D):c.5468-1G>A rs759629535 0.00001
NM_003482.4(KMT2D):c.10018C>T (p.Gln3340Ter) rs2120477465
NM_003482.4(KMT2D):c.10109del (p.Gln3370fs) rs2120476270
NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)
NM_003482.4(KMT2D):c.10258dup (p.Ile3420fs) rs1943140835
NM_003482.4(KMT2D):c.10295dup (p.Leu3432fs) rs2120461457
NM_003482.4(KMT2D):c.1033_1036del (p.Leu345fs) rs1592159322
NM_003482.4(KMT2D):c.1035_1036del (p.Cys346fs)
NM_003482.4(KMT2D):c.10394del (p.Gly3465fs) rs1284500089
NM_003482.4(KMT2D):c.10394dup (p.Pro3466fs)
NM_003482.4(KMT2D):c.10496_10497del (p.Gln3499fs)
NM_003482.4(KMT2D):c.10538G>A (p.Trp3513Ter) rs2120455070
NM_003482.4(KMT2D):c.10552C>T (p.Gln3518Ter) rs2120454881
NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs) rs1592123162
NM_003482.4(KMT2D):c.10688dup (p.Leu3564fs) rs1943096023
NM_003482.4(KMT2D):c.10694del (p.Lys3565fs) rs1943095795
NM_003482.4(KMT2D):c.10740G>T (p.Gln3580His) rs398123700
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.10777del (p.Ala3593fs) rs1592122640
NM_003482.4(KMT2D):c.10810C>T (p.Gln3604Ter) rs1060499552
NM_003482.4(KMT2D):c.10841C>G (p.Ser3614Ter) rs758877211
NM_003482.4(KMT2D):c.11093dup (p.Phe3699fs) rs35493001
NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)
NM_003482.4(KMT2D):c.11203C>T (p.Gln3735Ter) rs1943059195
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter) rs587783681
NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter) rs863224890
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11320C>T (p.Gln3774Ter) rs2120442365
NM_003482.4(KMT2D):c.11386del (p.Gln3796fs) rs587783683
NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter) rs786205478
NM_003482.4(KMT2D):c.11425del (p.Val3809fs) rs1943046189
NM_003482.4(KMT2D):c.11461C>T (p.Gln3821Ter) rs2120441127
NM_003482.4(KMT2D):c.11475_11478del (p.Gln3826fs) rs1057519067
NM_003482.4(KMT2D):c.11515C>T (p.Gln3839Ter) rs1555188653
NM_003482.4(KMT2D):c.11524C>T (p.Gln3842Ter) rs1943040858
NM_003482.4(KMT2D):c.11597dup (p.Gln3867fs) rs1943033366
NM_003482.4(KMT2D):c.11632C>T (p.Gln3878Ter) rs1397969096
NM_003482.4(KMT2D):c.11679del (p.Met3894fs) rs1943027165
NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter) rs2120437427
NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter) rs886041106
NM_003482.4(KMT2D):c.11770dup (p.Gln3924fs) rs1943016320
NM_003482.4(KMT2D):c.11806C>T (p.Gln3936Ter)
NM_003482.4(KMT2D):c.11827C>T (p.Gln3943Ter) rs1943006802
NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter) rs797045658
NM_003482.4(KMT2D):c.11851C>T (p.Gln3951Ter) rs1943001493
NM_003482.4(KMT2D):c.11890C>T (p.Gln3964Ter)
NM_003482.4(KMT2D):c.1193del (p.Gly398fs)
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.4(KMT2D):c.11977C>T (p.Gln3993Ter) rs749377569
NM_003482.4(KMT2D):c.12183del (p.Glu4061fs) rs1942971523
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.12301C>T (p.Gln4101Ter) rs1942965341
NM_003482.4(KMT2D):c.12304C>T (p.Gln4102Ter) rs1555188129
NM_003482.4(KMT2D):c.12395del (p.His4132fs)
NM_003482.4(KMT2D):c.12442_12455del (p.Met4148fs) rs1942957967
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.1248del (p.Lys417fs)
NM_003482.4(KMT2D):c.1257del (p.Ala422fs) rs1938140093
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12598C>T (p.Gln4200Ter) rs1942949318
NM_003482.4(KMT2D):c.12600_12604dup (p.Gln4202fs) rs1942949098
NM_003482.4(KMT2D):c.12661C>T (p.Gln4221Ter) rs1060499669
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter) rs1555187956
NM_003482.4(KMT2D):c.12700_12701del (p.Gln4235fs) rs1942942020
NM_003482.4(KMT2D):c.12757dup (p.Leu4253fs) rs1942938251
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.12878_12893del (p.Pro4293fs) rs1565773113
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.12943C>T (p.Gln4315Ter) rs1942924286
NM_003482.4(KMT2D):c.12955A>T (p.Arg4319Ter) rs1942923153
NM_003482.4(KMT2D):c.12956_12957del (p.Arg4319fs) rs587783687
NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter) rs587783688
NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) rs398123715
NM_003482.4(KMT2D):c.13014del (p.Thr4339fs) rs1942919472
NM_003482.4(KMT2D):c.1301del (p.Leu434fs) rs1555197738
NM_003482.4(KMT2D):c.13090C>T (p.Gln4364Ter)
NM_003482.4(KMT2D):c.13201C>T (p.Gln4401Ter) rs1942908701
NM_003482.4(KMT2D):c.13207_13208del (p.Asn4403fs) rs1555187577
NM_003482.4(KMT2D):c.13297dup (p.Arg4433fs) rs1942904418
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13320del (p.Ile4440fs) rs1845429019
NM_003482.4(KMT2D):c.1336del (p.Glu446fs)
NM_003482.4(KMT2D):c.13378del (p.His4460fs) rs1942899021
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.13518del (p.Ser4507fs) rs587783691
NM_003482.4(KMT2D):c.13543dup (p.Arg4515fs) rs1942880441
NM_003482.4(KMT2D):c.13579A>T (p.Lys4527Ter) rs267607240
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.1363del (p.Glu455fs) rs1938115946
NM_003482.4(KMT2D):c.13780del (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.13795_13802del (p.Ala4599fs)
NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter) rs1555187117
NM_003482.4(KMT2D):c.13884del (p.Thr4629fs) rs886040960
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.13999_13999+12del
NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)
NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)
NM_003482.4(KMT2D):c.14069_14075+1del rs1555186619
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14076-1G>A rs1942763268
NM_003482.4(KMT2D):c.14113_14123del (p.Ile4705fs) rs2120393512
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.14216_14217del (p.Pro4739fs)
NM_003482.4(KMT2D):c.14251+1G>C
NM_003482.4(KMT2D):c.14515+1del rs1942691966
NM_003482.4(KMT2D):c.14568G>A (p.Trp4856Ter) rs1565763192
NM_003482.4(KMT2D):c.14575C>T (p.Gln4859Ter) rs1942683224
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.14719_14731del (p.Ser4907fs)
NM_003482.4(KMT2D):c.14753del (p.Pro4918fs) rs1592106879
NM_003482.4(KMT2D):c.14803G>T (p.Glu4935Ter) rs1404087769
NM_003482.4(KMT2D):c.14826dup (p.Glu4943Ter) rs1942639701
NM_003482.4(KMT2D):c.14843C>G (p.Ser4948Ter) rs940178682
NM_003482.4(KMT2D):c.14868del (p.Glu4957fs)
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.1491_1492del (p.Pro497_Pro498insTer) rs2120682681
NM_003482.4(KMT2D):c.14923del (p.Arg4975fs) rs2120366654
NM_003482.4(KMT2D):c.14975del (p.Leu4992fs) rs1942629238
NM_003482.4(KMT2D):c.14976del (p.Leu4993fs) rs1592106220
NM_003482.4(KMT2D):c.14989C>T (p.Gln4997Ter) rs2120365558
NM_003482.4(KMT2D):c.15057_15061del (p.Leu5020fs)
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15104G>A (p.Cys5035Tyr) rs398123723
NM_003482.4(KMT2D):c.15108_15110del (p.His5036_Glu5037delinsGln)
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.15194G>C (p.Trp5065Ser)
NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter) rs587783696
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.15349T>G (p.Cys5117Gly) rs1942604482
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15545dup (p.Leu5183fs) rs1942591784
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003482.4(KMT2D):c.15641G>C (p.Arg5214Pro) rs398123729
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) rs1942584412
NM_003482.4(KMT2D):c.15730A>T (p.Lys5244Ter) rs1942579666
NM_003482.4(KMT2D):c.15781C>T (p.Gln5261Ter) rs1942575636
NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter) rs587783697
NM_003482.4(KMT2D):c.15834del (p.Asp5279fs) rs1592102369
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.4(KMT2D):c.15902_15903del (p.Val5301fs) rs1565756561
NM_003482.4(KMT2D):c.15920C>G (p.Ser5307Ter) rs1942494207
NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter) rs587783699
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln) rs1555185217
NM_003482.4(KMT2D):c.16084_16085del (p.Lys5362fs)
NM_003482.4(KMT2D):c.16116dup (p.Asn5373fs) rs1942391847
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp) rs1565753611
NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.4(KMT2D):c.1634del (p.Leu545fs) rs886039399
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.4(KMT2D):c.16437del (p.Asn5480fs) rs1555184635
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.1643del (p.Pro548fs)
NM_003482.4(KMT2D):c.16469_16470del (p.Lys5490fs) rs1555184624
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.4(KMT2D):c.16522-5_16522-2del rs2137703007
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter) rs1592162790
NM_003482.4(KMT2D):c.169del (p.Asp57fs) rs1938314766
NM_003482.4(KMT2D):c.176+1G>A rs1592162768
NM_003482.4(KMT2D):c.177-1G>A
NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter) rs587783705
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.2007dup (p.Pro670fs)
NM_003482.4(KMT2D):c.204_205del (p.Leu68_Cys69insTer) rs1938301071
NM_003482.4(KMT2D):c.2091dup (p.Thr698fs) rs1938028530
NM_003482.4(KMT2D):c.2164del (p.Glu722fs) rs1064796275
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.2488G>T (p.Glu830Ter) rs1286510393
NM_003482.4(KMT2D):c.2506dup (p.Gln836fs) rs1937965638
NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter) rs587783708
NM_003482.4(KMT2D):c.2579del (p.Leu860fs) rs1592153986
NM_003482.4(KMT2D):c.2760_2782del (p.Gly921fs) rs1937935080
NM_003482.4(KMT2D):c.2871dup (p.Glu958fs)
NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs) rs797045660
NM_003482.4(KMT2D):c.297del (p.Ser102fs) rs1938291650
NM_003482.4(KMT2D):c.303del (p.Ser102fs) rs797045661
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.3190del (p.Val1064fs)
NM_003482.4(KMT2D):c.3292del (p.Met1098fs) rs1592152233
NM_003482.4(KMT2D):c.3326_3336del (p.Ala1109fs) rs1565813691
NM_003482.4(KMT2D):c.349C>T (p.Gln117Ter)
NM_003482.4(KMT2D):c.400+1G>C rs587783714
NM_003482.4(KMT2D):c.400+2T>C rs1938283570
NM_003482.4(KMT2D):c.4093G>T (p.Val1365Phe) rs1937710190
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4148G>A (p.Cys1383Tyr) rs1064794026
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.4168del (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter) rs1555195441
NM_003482.4(KMT2D):c.4221del (p.Cys1408fs) rs587783715
NM_003482.4(KMT2D):c.4237-2A>C rs797045001
NM_003482.4(KMT2D):c.4359C>A (p.His1453Gln) rs767737749
NM_003482.4(KMT2D):c.4379del (p.Pro1460fs) rs1240601136
NM_003482.4(KMT2D):c.4379dup (p.Leu1461fs) rs1240601136
NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter)
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4419-1G>C
NM_003482.4(KMT2D):c.4464del (p.Cys1489fs) rs2120605276
NM_003482.4(KMT2D):c.466G>T (p.Glu156Ter) rs1057519422
NM_003482.4(KMT2D):c.4739del (p.Pro1580fs) rs587783719
NM_003482.4(KMT2D):c.4870del (p.Ala1624fs)
NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs) rs797045667
NM_003482.4(KMT2D):c.50-2A>G
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.510G>A (p.Gln170=)
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.5278A>T (p.Lys1760Ter) rs1592142093
NM_003482.4(KMT2D):c.538_539insA (p.Ala180fs) rs1938253506
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.5642_5644+1del rs2120563266
NM_003482.4(KMT2D):c.5707C>T (p.Arg1903Ter) rs886041405
NM_003482.4(KMT2D):c.5764C>T (p.Gln1922Ter) rs1943600170
NM_003482.4(KMT2D):c.5783-1G>A
NM_003482.4(KMT2D):c.5852del (p.Pro1951fs) rs1060499724
NM_003482.4(KMT2D):c.5867+5G>A rs1943591477
NM_003482.4(KMT2D):c.5869G>T (p.Glu1957Ter) rs1592139573
NM_003482.4(KMT2D):c.595_604del (p.Thr199fs) rs1592161182
NM_003482.4(KMT2D):c.5983G>T (p.Gly1995Ter) rs1393276376
NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter) rs1592139221
NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs) rs1555198491
NM_003482.4(KMT2D):c.6086del (p.Pro2029fs) rs587783723
NM_003482.4(KMT2D):c.6110-2A>G rs1943556576
NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter) rs556669370
NM_003482.4(KMT2D):c.6171dup (p.Ala2058fs) rs797045668
NM_003482.4(KMT2D):c.6172del (p.Ala2058fs) rs797045669
NM_003482.4(KMT2D):c.6183+3G>T
NM_003482.4(KMT2D):c.6183G>A (p.Leu2061=) rs1943551792
NM_003482.4(KMT2D):c.6239_6240insAGATCAACAAGCAGGTCTCCCCCTGT (p.Glu2081fs) rs1943530881
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6323dup (p.Gln2109fs) rs2120547138
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6622C>T (p.Gln2208Ter) rs1943503824
NM_003482.4(KMT2D):c.6670_6674del (p.Gly2224fs) rs587783725
NM_003482.4(KMT2D):c.6782dup (p.Gly2262fs)
NM_003482.4(KMT2D):c.6962T>G (p.Leu2321Ter) rs1943478443
NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter) rs1592136242
NM_003482.4(KMT2D):c.7199del (p.Pro2400fs)
NM_003482.4(KMT2D):c.7223dup (p.Ser2409fs) rs1943461604
NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) rs1943461045
NM_003482.4(KMT2D):c.7378del (p.Arg2460fs) rs1943453335
NM_003482.4(KMT2D):c.7407_7408insT (p.Pro2470fs) rs2120527860
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.4(KMT2D):c.751dup (p.Tyr251fs) rs1938216771
NM_003482.4(KMT2D):c.7613dup (p.Gln2540fs) rs1943436869
NM_003482.4(KMT2D):c.7650del (p.Val2551fs) rs2120522545
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003482.4(KMT2D):c.7938del (p.Asp2647fs) rs1943409769
NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs)
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.8077C>T (p.Gln2693Ter)
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter) rs1565790749
NM_003482.4(KMT2D):c.8229+1G>A rs1592133086
NM_003482.4(KMT2D):c.8230-1G>A rs1592132971
NM_003482.4(KMT2D):c.8263A>T (p.Lys2755Ter) rs1943374805
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848
NM_003482.4(KMT2D):c.8366+1G>T rs1057518149
NM_003482.4(KMT2D):c.8366+2T>C rs1943368267
NM_003482.4(KMT2D):c.8366+2T>G rs1943368267
NM_003482.4(KMT2D):c.836dup (p.Cys279fs) rs797045670
NM_003482.4(KMT2D):c.839+1del
NM_003482.4(KMT2D):c.8430dup (p.Gln2811fs) rs1943354738
NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs) rs797045671
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.4(KMT2D):c.8626C>T (p.Gln2876Ter)
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.8780C>G (p.Ser2927Ter) rs1943336569
NM_003482.4(KMT2D):c.9009dup (p.Glu3004fs)
NM_003482.4(KMT2D):c.9014_9015del (p.Asp3005fs) rs1943323407
NM_003482.4(KMT2D):c.9022G>T (p.Glu3008Ter) rs1943323180
NM_003482.4(KMT2D):c.9223dup (p.Ser3075fs) rs1592130816
NM_003482.4(KMT2D):c.945del (p.Ser314_Trp315insTer) rs1565822457
NM_003482.4(KMT2D):c.9540del (p.Glu3181fs) rs797045672
NM_003482.4(KMT2D):c.955-1G>A
NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_003482.4(KMT2D):c.9730G>T (p.Glu3244Ter) rs1258009682
NM_003482.4(KMT2D):c.9773del (p.Lys3258fs) rs2120482282
NM_003482.4(KMT2D):c.9787_9791dup (p.Gln3265fs) rs1943282614
NM_003482.4(KMT2D):c.9829C>T (p.Gln3277Ter) rs1943280408
NM_003482.4(KMT2D):c.9872_9882dup (p.Met3295fs) rs2120479652
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512
NM_003482.4(KMT2D):c.9964C>T (p.Gln3322Ter) rs1592129081

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