ClinVar Miner

List of variants in gene KMT2D reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met) rs35087111
NM_003482.3(KMT2D):c.10355+12G>A rs886262865
NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814
NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) rs61942218
NM_003482.3(KMT2D):c.10784A>G (p.Tyr3595Cys) rs1555189207
NM_003482.3(KMT2D):c.10836G>A (p.Gln3612=) rs3782357
NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) rs371444130
NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter) rs587783681
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11386del (p.Gln3796Argfs) rs587783683
NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195
NM_003482.3(KMT2D):c.11641A>G (p.Met3881Val) rs797045657
NM_003482.3(KMT2D):c.11756_11758del (p.Gln3919del) rs576788910
NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter) rs797045658
NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) rs180784366
NM_003482.3(KMT2D):c.11916G>A (p.Gln3972=) rs371224852
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.12172A>G (p.Met4058Val) rs398123710
NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=) rs370665309
NM_003482.3(KMT2D):c.12510A>G (p.Pro4170=) rs3741622
NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs) rs587783686
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.12956_12957del (p.Arg4319Thrfs) 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.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444Argfs) rs587783689
NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.3(KMT2D):c.13518del (p.Ser4507Alafs) rs587783691
NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.13671+10dupC rs147210845
NM_003482.3(KMT2D):c.13689C>T (p.Pro4563=) rs11168830
NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs) rs587783693
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.14238G>A (p.Arg4746=) rs75340924
NM_003482.3(KMT2D):c.14251+18T>C rs74830946
NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210
NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His) rs587783694
NM_003482.3(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459
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.15195G>A (p.Trp5065Ter) rs587783696
NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly) rs75031009
NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser) rs79330925
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter) rs587783697
NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter) rs587783699
NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) rs55776396
NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp) rs587783700
NM_003482.3(KMT2D):c.16412+13G>A rs587783701
NM_003482.3(KMT2D):c.16412+16delG rs34546217
NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser) rs587783702
NM_003482.3(KMT2D):c.16438_16441delAACT (p.Asn5480Valfs) rs587783703
NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.1813G>T (p.Glu605Ter) rs587783705
NM_003482.3(KMT2D):c.1899G>T (p.Ser633=) rs769981040
NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) rs147212187
NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) rs200116899
NM_003482.3(KMT2D):c.2062C>T (p.Arg688Cys) rs371076182
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.3(KMT2D):c.2215G>A (p.Glu739Lys) rs587783706
NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) rs200155807
NM_003482.3(KMT2D):c.2250_2276del (p.Arg755_Pro763del) rs587778449
NM_003482.3(KMT2D):c.2256_2282del (p.Arg755_Pro763del) rs587783707
NM_003482.3(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229
NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) rs55865069
NM_003482.3(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746
NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307
NM_003482.3(KMT2D):c.256G>T (p.Glu86Ter) rs587783708
NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.3(KMT2D):c.2798-7delC rs112620957
NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) rs2241726
NM_003482.3(KMT2D):c.288G>C (p.Val96=) rs587783710
NM_003482.3(KMT2D):c.2954_2955insT (p.Pro986Thrfs) rs797045660
NM_003482.3(KMT2D):c.3027G>A (p.Val1009=) rs138227815
NM_003482.3(KMT2D):c.303del (p.Ser102Alafs) rs797045661
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.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3585dup (p.Pro1196Thrfs) rs797045662
NM_003482.3(KMT2D):c.3591del (p.Thr1198Leufs) rs797045663
NM_003482.3(KMT2D):c.3695del (p.Pro1232Argfs) rs587783713
NM_003482.3(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115
NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala) rs74643880
NM_003482.3(KMT2D):c.3813A>G (p.Leu1271=) rs201794205
NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) rs201794205
NM_003482.3(KMT2D):c.400+1G>C rs587783714
NM_003482.3(KMT2D):c.400+7_400+8insC rs797045664
NM_003482.3(KMT2D):c.401-11del rs745388553
NM_003482.3(KMT2D):c.4020+13C>G rs184377216
NM_003482.3(KMT2D):c.4021-11_4021-10delCT rs55776244
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.4131G>C (p.Gln1377His) rs764942
NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs) rs398123744
NM_003482.3(KMT2D):c.4182C>T (p.Leu1394=) rs797045665
NM_003482.3(KMT2D):c.4209C>A (p.Cys1403Ter) rs1555195441
NM_003482.3(KMT2D):c.4221del (p.Cys1408Valfs) rs587783715
NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.3(KMT2D):c.4366T>A (p.Cys1456Ser) rs797045666
NM_003482.3(KMT2D):c.4418+5G>A rs587783717
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.3(KMT2D):c.4739del (p.Pro1580Glnfs) rs587783719
NM_003482.3(KMT2D):c.4941C>T (p.Thr1647=) rs748740454
NM_003482.3(KMT2D):c.4981dup (p.Glu1661Glyfs) rs797045667
NM_003482.3(KMT2D):c.4986C>T (p.Cys1662=) rs143063879
NM_003482.3(KMT2D):c.5016T>C (p.Pro1672=) rs114731584
NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) rs111924728
NM_003482.3(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.3(KMT2D):c.5592C>A (p.Gly1864=) rs587783720
NM_003482.3(KMT2D):c.5868-8C>T rs75783546
NM_003482.3(KMT2D):c.5952C>A (p.Pro1984=) rs587783721
NM_003482.3(KMT2D):c.5976G>A (p.Glu1992=) rs77794669
NM_003482.3(KMT2D):c.6020A>C (p.Glu2007Ala) rs587783722
NM_003482.3(KMT2D):c.603_604dup (p.Gly202Alafs) rs1555198491
NM_003482.3(KMT2D):c.6086del (p.Pro2029Leufs) rs587783723
NM_003482.3(KMT2D):c.6126C>A (p.Cys2042Ter) rs556669370
NM_003482.3(KMT2D):c.6171dupA (p.Ala2058Serfs) rs797045668
NM_003482.3(KMT2D):c.6172delG (p.Ala2058Profs) rs797045669
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) rs398123753
NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724
NM_003482.3(KMT2D):c.6670_6674del (p.Gly2224Ilefs) rs587783725
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
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.7035G>A (p.Leu2345=) rs398123756
NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626
NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) rs3741625
NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) rs111305262
NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108
NM_003482.3(KMT2D):c.7479G>T (p.Gly2493=) rs10747559
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.7841C>T (p.Ser2614Leu) rs376202668
NM_003482.3(KMT2D):c.7904G>A (p.Arg2635Gln) rs200359477
NM_003482.3(KMT2D):c.7981C>T (p.Leu2661Phe) rs1370465303
NM_003482.3(KMT2D):c.8047-15C>T rs202244933
NM_003482.3(KMT2D):c.8047-7dupT rs200754433
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) rs148457961
NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) rs116686402
NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs) rs587783728
NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.3(KMT2D):c.836dup (p.Cys279Trpfs) rs797045670
NM_003482.3(KMT2D):c.8445_8475dup (p.Ala2826Thrfs) rs797045671
NM_003482.3(KMT2D):c.8559G>A (p.Pro2853=) rs375344889
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.9347C>T (p.Pro3116Leu) rs1249007323
NM_003482.3(KMT2D):c.9491G>A (p.Arg3164Gln) rs587783730
NM_003482.3(KMT2D):c.9540del (p.Glu3181Argfs) rs797045672
NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409
NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) rs183688784
NM_003482.3(KMT2D):c.9765T>C (p.His3255=) rs146213252

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