ClinVar Miner

List of variants in gene KMT2D studied for not specified

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Gene type:
ClinVar version:
Total variants: 230
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HGVS dbSNP
NM_003482.3(KMT2D):c.10024C>T (p.Arg3342Cys) rs371869550
NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) rs80149580
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.10355+12G>A rs886262865
NM_003482.3(KMT2D):c.10482G>A (p.Pro3494=) rs777636844
NM_003482.3(KMT2D):c.10508-11T>G rs374068805
NM_003482.3(KMT2D):c.1057C>A (p.Gln353Lys) rs587778487
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.10987G>A (p.Ala3663Thr) rs587778476
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.109C>T (p.His37Tyr) rs1243381790
NM_003482.3(KMT2D):c.11037A>G (p.Gln3679=) rs374418866
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) rs371444130
NM_003482.3(KMT2D):c.11120G>A (p.Arg3707Gln) rs587778477
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673
NM_003482.3(KMT2D):c.11202_11204GCA[8] (p.Gln3745dup) rs398123707
NM_003482.3(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880
NM_003482.3(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424
NM_003482.3(KMT2D):c.11470_11471delinsAT (p.His3824Ile) rs1555188671
NM_003482.3(KMT2D):c.1149C>T (p.Asp383=) rs201709328
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.11723_11728AGCAAC[1] (p.Gln3910_Gln3911del) rs398123709
NM_003482.3(KMT2D):c.11738_11740AGC[6] (p.Gln3919del) rs576788910
NM_003482.3(KMT2D):c.11875C>A (p.Gln3959Lys) rs587778473
NM_003482.3(KMT2D):c.11916G>A (p.Gln3972=) rs371224852
NM_003482.3(KMT2D):c.11957C>G (p.Ser3986Cys) rs768668663
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.12096C>T (p.Ala4032=) rs370145169
NM_003482.3(KMT2D):c.12139G>A (p.Gly4047Arg) rs587778478
NM_003482.3(KMT2D):c.12172A>G (p.Met4058Val) rs398123710
NM_003482.3(KMT2D):c.12454C>T (p.Leu4152Phe) rs1555188088
NM_003482.3(KMT2D):c.12510A>G (p.Pro4170=) rs3741622
NM_003482.3(KMT2D):c.1259-13G>A rs373466438
NM_003482.3(KMT2D):c.12800C>T (p.Pro4267Leu) rs587778474
NM_003482.3(KMT2D):c.12867C>T (p.Leu4289=) rs202082835
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.12980G>A (p.Ser4327Asn) rs587778479
NM_003482.3(KMT2D):c.12999G>T (p.Glu4333Asp) rs767696694
NM_003482.3(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.13081G>A (p.Ala4361Thr) rs201938646
NM_003482.3(KMT2D):c.13095T>C (p.Leu4365=) rs767751775
NM_003482.3(KMT2D):c.13220T>C (p.Val4407Ala) rs185126345
NM_003482.3(KMT2D):c.1342C>A (p.Pro448Thr) rs914611484
NM_003482.3(KMT2D):c.13465G>A (p.Gly4489Arg) rs200574556
NM_003482.3(KMT2D):c.13559C>T (p.Pro4520Leu) rs374531508
NM_003482.3(KMT2D):c.13582G>A (p.Ala4528Thr) rs587778480
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.13671+10dup rs147210845
NM_003482.3(KMT2D):c.1367C>T (p.Ser456Leu) rs750781052
NM_003482.3(KMT2D):c.13689C>T (p.Pro4563=) rs11168830
NM_003482.3(KMT2D):c.13796C>T (p.Ala4599Val) rs577303074
NM_003482.3(KMT2D):c.13817A>G (p.Tyr4606Cys) rs587778481
NM_003482.3(KMT2D):c.13969T>C (p.Ser4657Pro) rs587778482
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.14749C>T (p.Pro4917Ser) rs587778485
NM_003482.3(KMT2D):c.14829G>A (p.Glu4943=) rs374958373
NM_003482.3(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459
NM_003482.3(KMT2D):c.15011A>T (p.Glu5004Val) rs587778484
NM_003482.3(KMT2D):c.15090T>G (p.Arg5030=) rs373414243
NM_003482.3(KMT2D):c.15200C>T (p.Thr5067Met) rs767962124
NM_003482.3(KMT2D):c.15317G>A (p.Arg5106His) rs587778486
NM_003482.3(KMT2D):c.15540G>C (p.Val5180=) rs149393179
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.1579C>T (p.Pro527Ser) rs587778450
NM_003482.3(KMT2D):c.15968G>A (p.Arg5323His) rs745599611
NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) rs55776396
NM_003482.3(KMT2D):c.16115C>G (p.Thr5372Ser) rs779587030
NM_003482.3(KMT2D):c.16197G>A (p.Val5399=) rs776542344
NM_003482.3(KMT2D):c.16412+16del rs34546217
NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) rs199798179
NM_003482.3(KMT2D):c.1672C>T (p.Pro558Ser) rs587778451
NM_003482.3(KMT2D):c.1677_1703del (p.Glu560_Glu568del) rs587778448
NM_003482.3(KMT2D):c.1725A>T (p.Pro575=) rs371243627
NM_003482.3(KMT2D):c.1899G>T (p.Ser633=) rs769981040
NM_003482.3(KMT2D):c.191G>A (p.Arg64Gln) rs587778462
NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) rs147212187
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.1965C>A (p.Pro655=) rs200939188
NM_003482.3(KMT2D):c.1994C>T (p.Pro665Leu) rs780891095
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.2088_2114del (p.Thr698_Pro706del) rs780334086
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.3(KMT2D):c.2204G>T (p.Cys735Phe) rs772901550
NM_003482.3(KMT2D):c.2206C>T (p.Pro736Ser) rs552543556
NM_003482.3(KMT2D):c.2215G>A (p.Glu739Lys) rs587783706
NM_003482.3(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453
NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) rs200155807
NM_003482.3(KMT2D):c.2250_2276del (p.746_754RPEEPHLSP[1]) rs587778449
NM_003482.3(KMT2D):c.2256_2282del (p.746_754RPEEPHLSP[1]) 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.2546C>T (p.Ser849Leu) rs370492566
NM_003482.3(KMT2D):c.2656C>A (p.Pro886Thr) rs199946966
NM_003482.3(KMT2D):c.2656C>G (p.Pro886Ala) rs199946966
NM_003482.3(KMT2D):c.2785C>T (p.Leu929=) rs745396055
NM_003482.3(KMT2D):c.2798-7del rs112620957
NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) rs2241726
NM_003482.3(KMT2D):c.2838G>A (p.Ala946=) rs376753331
NM_003482.3(KMT2D):c.2868G>C (p.Glu956Asp) rs1057523642
NM_003482.3(KMT2D):c.288G>C (p.Val96=) rs587783710
NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.3(KMT2D):c.3027G>A (p.Val1009=) rs138227815
NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.3(KMT2D):c.3180_3181delinsTT (p.Lys1060_Val1061delinsAsnLeu) rs587778454
NM_003482.3(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3618C>T (p.Asn1206=) rs200624640
NM_003482.3(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115
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.3819C>T (p.Cys1273=) rs373373098
NM_003482.3(KMT2D):c.3902A>G (p.Lys1301Arg) rs587778455
NM_003482.3(KMT2D):c.3993_3995del (p.Thr1332del) rs587778456
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.4021-15CT[2] rs55776244
NM_003482.3(KMT2D):c.4030A>G (p.Ile1344Val) rs574134747
NM_003482.3(KMT2D):c.4089C>T (p.Thr1363=) rs369601017
NM_003482.3(KMT2D):c.4143G>A (p.Val1381=) rs398123745
NM_003482.3(KMT2D):c.4182C>T (p.Leu1394=) rs797045665
NM_003482.3(KMT2D):c.4366T>A (p.Cys1456Ser) rs797045666
NM_003482.3(KMT2D):c.4389C>T (p.Thr1463=) rs372775501
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.4518C>A (p.Thr1506=) rs150988159
NM_003482.3(KMT2D):c.4941C>T (p.Thr1647=) rs748740454
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.510+45T>G rs370735843
NM_003482.3(KMT2D):c.5129C>T (p.Thr1710Met) rs587778457
NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) rs201686029
NM_003482.3(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458
NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) rs111924728
NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) rs200369026
NM_003482.3(KMT2D):c.5386C>T (p.Arg1796Trp) rs186948725
NM_003482.3(KMT2D):c.5467+19A>C rs78764337
NM_003482.3(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512
NM_003482.3(KMT2D):c.5504G>T (p.Arg1835Leu) rs368134008
NM_003482.3(KMT2D):c.553C>T (p.Arg185Cys) rs201796530
NM_003482.3(KMT2D):c.5546G>A (p.Gly1849Glu) rs587778459
NM_003482.3(KMT2D):c.5592C>A (p.Gly1864=) rs587783720
NM_003482.3(KMT2D):c.5732C>A (p.Thr1911Asn) rs587778460
NM_003482.3(KMT2D):c.5753G>A (p.Arg1918His) rs587778461
NM_003482.3(KMT2D):c.5868-8C>T rs75783546
NM_003482.3(KMT2D):c.5874C>T (p.Arg1958=) rs182887940
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.6076A>G (p.Ile2026Val) rs190995850
NM_003482.3(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948
NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) rs374216845
NM_003482.3(KMT2D):c.6317T>C (p.Ile2106Thr) rs587778467
NM_003482.3(KMT2D):c.6319C>A (p.Pro2107Thr) rs201977719
NM_003482.3(KMT2D):c.6349C>T (p.Pro2117Ser) rs758476128
NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) rs377392943
NM_003482.3(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463
NM_003482.3(KMT2D):c.6445T>C (p.Ser2149Pro) rs587778468
NM_003482.3(KMT2D):c.6505G>A (p.Ala2169Thr) rs369501280
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6740C>G (p.Pro2247Arg) rs587778464
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471
NM_003482.3(KMT2D):c.6812C>T (p.Pro2271Leu) rs587778465
NM_003482.3(KMT2D):c.682C>G (p.Arg228Gly) rs201994402
NM_003482.3(KMT2D):c.6832T>G (p.Phe2278Val) rs587778469
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
NM_003482.3(KMT2D):c.6901C>T (p.Pro2301Ser) rs200681496
NM_003482.3(KMT2D):c.7035G>A (p.Leu2345=) rs398123756
NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582
NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626
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.7229G>A (p.Arg2410Gln) rs587778466
NM_003482.3(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819
NM_003482.3(KMT2D):c.7479G>T (p.Gly2493=) rs10747559
NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) rs376603595
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.7954A>C (p.Met2652Leu) rs147706410
NM_003482.3(KMT2D):c.7981C>T (p.Leu2661Phe) rs1370465303
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.8006T>G (p.Met2669Arg) rs372520829
NM_003482.3(KMT2D):c.8046+11A>G rs145186737
NM_003482.3(KMT2D):c.8047-15C>T rs202244933
NM_003482.3(KMT2D):c.8047-7dup rs200754433
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.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.3(KMT2D):c.8211C>T (p.Thr2737=) rs370558457
NM_003482.3(KMT2D):c.8547C>T (p.Ala2849=) rs368381758
NM_003482.3(KMT2D):c.8559G>A (p.Pro2853=) rs375344889
NM_003482.3(KMT2D):c.8695G>A (p.Gly2899Ser) rs587778472
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.9034C>T (p.Leu3012=) rs752355105
NM_003482.3(KMT2D):c.9135C>T (p.Asp3045=)
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_003482.3(KMT2D):c.9347C>T (p.Pro3116Leu) rs1249007323
NM_003482.3(KMT2D):c.9405C>G (p.Thr3135=) rs376141976
NM_003482.3(KMT2D):c.9418A>G (p.Lys3140Glu) rs587778470
NM_003482.3(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827
NM_003482.3(KMT2D):c.9491G>A (p.Arg3164Gln) rs587783730
NM_003482.3(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717
NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) rs183688784
NM_003482.3(KMT2D):c.9729C>T (p.Ser3243=) rs369959158
NM_003482.3(KMT2D):c.9765T>C (p.His3255=) rs146213252

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