ClinVar Miner

List of variants in gene KMT2D reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.7411C>T (p.Arg2471Ter) rs1057518571 0.00001
GRCh37/hg19 12q13.12(chr12:49433507-49437211)x1
NM_003482.4(KMT2D):c.1016G>A (p.Trp339Ter) rs2120692527
NM_003482.4(KMT2D):c.10369_10370del (p.Leu3457fs) rs1555189455
NM_003482.4(KMT2D):c.1047T>A (p.Cys349Ter)
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs) rs398123699
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter) rs398123701
NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter) rs398123702
NM_003482.4(KMT2D):c.10858dup (p.Ser3620fs) rs1943078129
NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter) rs398123704
NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs) rs398123706
NM_003482.4(KMT2D):c.11214del (p.Gln3738fs) rs1555188885
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.1143del (p.Thr382fs) rs1064796125
NM_003482.4(KMT2D):c.11475_11478del (p.Gln3826fs) rs1057519067
NM_003482.4(KMT2D):c.11515dup (p.Gln3839fs)
NM_003482.4(KMT2D):c.11519dup (p.Ala3841fs) rs1555188651
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.11713C>T (p.Gln3905Ter) rs886042253
NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter) rs2120437427
NM_003482.4(KMT2D):c.11740C>T (p.Gln3914Ter) rs2120437244
NM_003482.4(KMT2D):c.11749C>T (p.Gln3917Ter) rs1555188515
NM_003482.4(KMT2D):c.11764C>T (p.Gln3922Ter)
NM_003482.4(KMT2D):c.11797C>T (p.Gln3933Ter)
NM_003482.4(KMT2D):c.11939del (p.Gln3980fs) rs794727610
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.4(KMT2D):c.11962C>T (p.Gln3988Ter)
NM_003482.4(KMT2D):c.12066_12067insTCAG (p.Gly4023fs) rs1592118753
NM_003482.4(KMT2D):c.12406C>T (p.Gln4136Ter) rs398123711
NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter) rs398123712
NM_003482.4(KMT2D):c.12466C>T (p.Gln4156Ter) rs1131691768
NM_003482.4(KMT2D):c.12481del (p.Glu4161fs) rs794727611
NM_003482.4(KMT2D):c.1259-2A>G rs1057520573
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter) rs1555187956
NM_003482.4(KMT2D):c.12730C>T (p.Gln4244Ter) rs1555187899
NM_003482.4(KMT2D):c.12778C>T (p.Gln4260Ter) rs1565773662
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.12944_12945del (p.Gln4315fs) rs1592116475
NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer) rs398123715
NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) rs398123715
NM_003482.4(KMT2D):c.1301del (p.Leu434fs) rs1555197738
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.13090C>T (p.Gln4364Ter)
NM_003482.4(KMT2D):c.13309_13319del (p.Gly4437fs)
NM_003482.4(KMT2D):c.13324del (p.Ala4442fs) rs886043505
NM_003482.4(KMT2D):c.133del (p.Ser45fs) rs727503990
NM_003482.4(KMT2D):c.1345_1346del (p.Leu449fs) rs1555197682
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13652_13660del (p.Leu4551_Gln4554delinsTer) rs1064796300
NM_003482.4(KMT2D):c.13715del (p.Asn4572fs)
NM_003482.4(KMT2D):c.13780del (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.13780dup (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.13884del (p.Thr4629fs) rs886040960
NM_003482.4(KMT2D):c.13999+1G>A rs886041779
NM_003482.4(KMT2D):c.14000del (p.Asp4667fs) rs1942780608
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.14194C>T (p.Gln4732Ter) rs1555186520
NM_003482.4(KMT2D):c.14381A>G (p.Lys4794Arg)
NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter) rs398123720
NM_003482.4(KMT2D):c.14644-3C>G rs1555186093
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.4(KMT2D):c.1485_1486del (p.Pro496fs)
NM_003482.4(KMT2D):c.14867del (p.Pro4956fs) rs1592106511
NM_003482.4(KMT2D):c.14885dup (p.Pro4963fs) rs797044744
NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs) rs398123722
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.15088C>T (p.Arg5030Cys) rs1555185875
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[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.15172del (p.Val5058fs) rs794727689
NM_003482.4(KMT2D):c.15223_15227dup (p.Leu5077fs) rs2120362289
NM_003482.4(KMT2D):c.15239_15240del (p.Val5080fs) rs2120362095
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.15289C>T (p.Arg5097Ter) rs1942608745
NM_003482.4(KMT2D):c.15341A>G (p.His5114Arg)
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) rs1942584412
NM_003482.4(KMT2D):c.15708_15717delinsTA (p.Gly5237fs) rs886041660
NM_003482.4(KMT2D):c.15922-2A>C
NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs) rs398123732
NM_003482.4(KMT2D):c.15970del (p.His5324fs) rs1942486898
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_003482.4(KMT2D):c.16019G>T (p.Arg5340Leu)
NM_003482.4(KMT2D):c.16109del (p.Gly5370fs) rs398123733
NM_003482.4(KMT2D):c.1616del (p.Pro539fs) rs1592157134
NM_003482.4(KMT2D):c.16184G>A (p.Trp5395Ter) rs886041558
NM_003482.4(KMT2D):c.16209_16222del (p.Ser5404fs) rs1592099335
NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys) rs2137706560
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp) rs1565753611
NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs) rs398123735
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.16391_16392insAG (p.Leu5465fs)
NM_003482.4(KMT2D):c.16412+1G>T rs794727752
NM_003482.4(KMT2D):c.16438A>G (p.Asn5480Asp)
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.16469_16472del (p.Lys5490fs) rs886041499
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.4(KMT2D):c.16522-1G>A rs1057520667
NM_003482.4(KMT2D):c.177-9_178del rs794727497
NM_003482.4(KMT2D):c.1814_1815del (p.Glu605fs) rs727503989
NM_003482.4(KMT2D):c.1845dup (p.Pro616fs) rs1555197320
NM_003482.4(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.4(KMT2D):c.1940dup (p.Pro648fs) rs770315135
NM_003482.4(KMT2D):c.1966del (p.Leu656fs) rs886042284
NM_003482.4(KMT2D):c.2141C>A (p.Ser714Ter) rs747636808
NM_003482.4(KMT2D):c.2164del (p.Glu722fs) rs1064796275
NM_003482.4(KMT2D):c.2317C>T (p.Gln773Ter) rs758555274
NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs) rs1555196720
NM_003482.4(KMT2D):c.2635G>T (p.Glu879Ter)
NM_003482.4(KMT2D):c.2713del (p.Glu905fs) rs1064796995
NM_003482.4(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs) rs797044630
NM_003482.4(KMT2D):c.2782C>T (p.Gln928Ter) rs1937934886
NM_003482.4(KMT2D):c.2797+1G>A rs727503988
NM_003482.4(KMT2D):c.2877C>G (p.Tyr959Ter) rs1937915973
NM_003482.4(KMT2D):c.303dup (p.Ser102fs) rs797045661
NM_003482.4(KMT2D):c.3109_3110del (p.Ser1037fs) rs1555196415
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.401-2A>T rs1555198655
NM_003482.4(KMT2D):c.401-3A>G rs886041408
NM_003482.4(KMT2D):c.4132-2A>G
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.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4265G>A (p.Trp1422Ter) rs794727143
NM_003482.4(KMT2D):c.4271G>C (p.Cys1424Ser) rs1057520740
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4406G>A (p.Trp1469Ter) rs1943798591
NM_003482.4(KMT2D):c.4413C>G (p.Cys1471Trp)
NM_003482.4(KMT2D):c.4421G>T (p.Cys1474Phe) rs587783718
NM_003482.4(KMT2D):c.4485C>G (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.4525_4528del (p.Ile1509fs) rs1592145939
NM_003482.4(KMT2D):c.4693+1G>T rs886041406
NM_003482.4(KMT2D):c.4843C>T (p.Arg1615Ter) rs1943714221
NM_003482.4(KMT2D):c.508C>T (p.Gln170Ter)
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5131A>T (p.Lys1711Ter) rs794727342
NM_003482.4(KMT2D):c.5139del (p.Pro1714fs) rs886041627
NM_003482.4(KMT2D):c.5185G>T (p.Glu1729Ter) rs747363115
NM_003482.4(KMT2D):c.5189-2A>G
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.5278_5279del (p.Lys1760fs) rs1064796043
NM_003482.4(KMT2D):c.5319+1G>T rs1057520722
NM_003482.4(KMT2D):c.5423del (p.Gly1808fs) rs794727379
NM_003482.4(KMT2D):c.5467+5_5467+8del rs1064793884
NM_003482.4(KMT2D):c.551del (p.Cys184fs)
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.5645-2A>G rs398123750
NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter) rs794727420
NM_003482.4(KMT2D):c.5707C>T (p.Arg1903Ter) rs886041405
NM_003482.4(KMT2D):c.5713C>T (p.Gln1905Ter) rs2120560322
NM_003482.4(KMT2D):c.5753_5782+7delinsTCTTCA rs2120559513
NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.4(KMT2D):c.5998C>T (p.Gln2000Ter) rs1565798715
NM_003482.4(KMT2D):c.6109+1G>C rs2120552710
NM_003482.4(KMT2D):c.6172del (p.Ala2058fs) rs797045669
NM_003482.4(KMT2D):c.6247C>T (p.Gln2083Ter)
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6404T>A (p.Leu2135Ter) rs1943518455
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6613delinsAA (p.Ala2205fs) rs2120542630
NM_003482.4(KMT2D):c.6664C>T (p.Gln2222Ter) rs1555192676
NM_003482.4(KMT2D):c.702del (p.Pro235fs) rs1555198318
NM_003482.4(KMT2D):c.7066C>T (p.Gln2356Ter) rs398123757
NM_003482.4(KMT2D):c.709del (p.Glu237fs) rs1064793649
NM_003482.4(KMT2D):c.7140del (p.Gln2380fs) rs398123758
NM_003482.4(KMT2D):c.721del (p.Leu241fs)
NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) rs1943461045
NM_003482.4(KMT2D):c.7306del (p.Cys2436fs) rs2120529379
NM_003482.4(KMT2D):c.7321dup (p.Thr2441fs)
NM_003482.4(KMT2D):c.7325del (p.Pro2442fs) rs1555192192
NM_003482.4(KMT2D):c.7375_7376del (p.Ser2459fs) rs794727548
NM_003482.4(KMT2D):c.7479del (p.Phe2494fs)
NM_003482.4(KMT2D):c.7643dup (p.Pro2549fs) rs886043495
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter) rs794727549
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
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.8214del (p.Phe2739fs) rs1565790685
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848
NM_003482.4(KMT2D):c.8366+1G>A rs1057518149
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter) rs1592159924
NM_003482.4(KMT2D):c.8650dup (p.Val2884fs) rs886041556
NM_003482.4(KMT2D):c.8696del (p.Gly2899fs) rs1057518186
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.8794_8795del (p.Gln2932fs) rs1565788703
NM_003482.4(KMT2D):c.8826del (p.Asn2943fs) rs1592131399
NM_003482.4(KMT2D):c.8841_8844del (p.His2947fs) rs1555190924
NM_003482.4(KMT2D):c.8903dup (p.Ser2969fs)
NM_003482.4(KMT2D):c.9041_9042del (p.Leu3014fs) rs886043252
NM_003482.4(KMT2D):c.9099del (p.Asn3034fs) rs1064796855
NM_003482.4(KMT2D):c.9265dup (p.Val3089fs) rs1333678798
NM_003482.4(KMT2D):c.9367del (p.Glu3123fs) rs886041416
NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_003482.4(KMT2D):c.9805C>T (p.Gln3269Ter)
NM_003482.4(KMT2D):c.9835C>T (p.Gln3279Ter) rs2120480689
NM_003482.4(KMT2D):c.9937_9939delinsA (p.Leu3313fs) rs1555190224
NM_003482.4(KMT2D):c.9962_9993del (p.Arg3321fs)

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