ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=) rs10747559 0.42978
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=) rs3782357 0.42594
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=) rs2241726 0.39054
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) rs3741622 0.25778
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210 0.09584
NM_003482.4(KMT2D):c.13689C>T (p.Pro4563=) rs11168830 0.06301
NM_003482.4(KMT2D):c.10671A>G (p.Pro3557=) rs61942218 0.04331
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229 0.04312
NM_003482.4(KMT2D):c.14251+18T>C rs74830946 0.04121
NM_003482.4(KMT2D):c.14238G>A (p.Arg4746=) rs75340924 0.04096
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=) rs111924728 0.01973
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=) rs116686402 0.01940
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195 0.01486
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
NM_003482.4(KMT2D):c.5976G>A (p.Glu1992=) rs77794669 0.01137
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_003482.4(KMT2D):c.5868-8C>T rs75783546 0.00934
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_003482.4(KMT2D):c.5016T>C (p.Pro1672=) rs114731584 0.00814
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626 0.00649
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=) rs148457961 0.00394
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_003482.4(KMT2D):c.9765T>C (p.His3255=) rs146213252 0.00148
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) rs183688784 0.00124
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_003482.4(KMT2D):c.10045A>G (p.Met3349Val) rs80149580 0.00083
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val) rs200943206 0.00068
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) rs180784366 0.00056
NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=) rs189571290 0.00052
NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro) rs200429063 0.00051
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=) rs587783721 0.00030
NM_003482.4(KMT2D):c.7545C>T (p.Pro2515=) rs373469160 0.00029
NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050 0.00028
NM_003482.4(KMT2D):c.16249C>T (p.Leu5417=) rs200803613 0.00026
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003482.4(KMT2D):c.8559G>A (p.Pro2853=) rs375344889 0.00026
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_003482.4(KMT2D):c.13524C>T (p.Asn4508=) rs199676066 0.00021
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.2062C>T (p.Arg688Cys) rs371076182 0.00016
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00016
NM_003482.4(KMT2D):c.11916G>A (p.Gln3972=) rs371224852 0.00015
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) rs200155807 0.00015
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814 0.00014
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_003482.4(KMT2D):c.8973C>T (p.Pro2991=) rs375466241 0.00011
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.15558C>T (p.His5186=) rs2024 0.00010
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) rs138227815 0.00010
NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu) rs767236217 0.00010
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) rs376227770 0.00007
NM_003482.4(KMT2D):c.553C>T (p.Arg185Cys) rs201796530 0.00007
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=) rs370665309 0.00006
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=) rs758265897 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.5921C>T (p.Thr1974Met) rs777415982 0.00006
NM_003482.4(KMT2D):c.7904G>A (p.Arg2635Gln) rs200359477 0.00006
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) rs398123710 0.00005
NM_003482.4(KMT2D):c.13710C>T (p.Thr4570=) rs781047520 0.00005
NM_003482.4(KMT2D):c.15120C>T (p.Asp5040=) rs143955226 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) rs35087111 0.00004
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) rs567323882 0.00004
NM_003482.4(KMT2D):c.1296C>T (p.Ala432=) rs547058856 0.00004
NM_003482.4(KMT2D):c.13560G>A (p.Pro4520=) rs758268996 0.00004
NM_003482.4(KMT2D):c.16412+13G>A rs587783701 0.00004
NM_003482.4(KMT2D):c.4182C>T (p.Leu1394=) rs797045665 0.00004
NM_003482.4(KMT2D):c.5007C>T (p.Pro1669=) rs200225974 0.00004
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455 0.00004
NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr) rs746638965 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr) rs752428122 0.00004
NM_003482.4(KMT2D):c.12664C>G (p.Leu4222Val) rs375330730 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.2215G>A (p.Glu739Lys) rs587783706 0.00003
NM_003482.4(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307 0.00003
NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=) rs748740454 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_003482.4(KMT2D):c.7108C>T (p.Arg2370Cys) rs1028524252 0.00003
NM_003482.4(KMT2D):c.8904G>A (p.Pro2968=) rs767700267 0.00003
NM_003482.4(KMT2D):c.11342G>A (p.Ser3781Asn) rs368670448 0.00002
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val) rs797045657 0.00002
NM_003482.4(KMT2D):c.6501G>A (p.Val2167=) rs751139032 0.00002
NM_003482.4(KMT2D):c.1042C>T (p.Arg348Cys) rs746039927 0.00001
NM_003482.4(KMT2D):c.12610G>A (p.Val4204Ile) rs202126693 0.00001
NM_003482.4(KMT2D):c.14028G>T (p.Leu4676=) rs1464807705 0.00001
NM_003482.4(KMT2D):c.1447T>C (p.Leu483=) rs538588651 0.00001
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His) rs587783694 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_003482.4(KMT2D):c.1759G>C (p.Glu587Gln) rs199980307 0.00001
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) rs1368572 0.00001
NM_003482.4(KMT2D):c.5966C>T (p.Thr1989Met) rs754420100 0.00001
NM_003482.4(KMT2D):c.6441G>A (p.Ala2147=) rs763357891 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726 0.00001
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) rs3741625 0.00001
NM_003482.4(KMT2D):c.7841C>T (p.Ser2614Leu) rs376202668 0.00001
NM_003482.4(KMT2D):c.812C>G (p.Pro271Arg) rs755198691 0.00001
NM_003482.4(KMT2D):c.825G>A (p.Val275=) rs200767468 0.00001
NM_003482.4(KMT2D):c.9491G>A (p.Arg3164Gln) rs587783730 0.00001
NM_003482.4(KMT2D):c.10355+12G>A rs886262865
NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys) rs1555189207
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter) rs587783681
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11386del (p.Gln3796fs) rs587783683
NM_003482.4(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del) rs576788910
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter) rs797045658
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.4(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
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.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.13518del (p.Ser4507fs) rs587783691
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.1377_1403del (p.Ala464_Glu472del) rs1376080610
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.14839C>T (p.Pro4947Ser) rs1406097470
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.15184T>C (p.Cys5062Arg) rs2120362837
NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter) rs587783696
NM_003482.4(KMT2D):c.15245T>G (p.Val5082Gly) rs75031009
NM_003482.4(KMT2D):c.15361G>T (p.Ala5121Ser) rs79330925
NM_003482.4(KMT2D):c.15370A>G (p.Met5124Val)
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) rs779303083
NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter) rs587783697
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter) rs587783699
NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp) rs587783700
NM_003482.4(KMT2D):c.16412+16del rs34546217
NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser) rs587783702
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter) rs587783705
NM_003482.4(KMT2D):c.1899G>T (p.Ser633=) rs769981040
NM_003482.4(KMT2D):c.1978T>G (p.Ser660Ala) rs1938044612
NM_003482.4(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) rs398123736
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2317del (p.Gln773fs) rs1565817210
NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter) rs587783708
NM_003482.4(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.288G>C (p.Val96=) rs587783710
NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs) rs797045660
NM_003482.4(KMT2D):c.303del (p.Ser102fs) rs797045661
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.400+1G>C rs587783714
NM_003482.4(KMT2D):c.400+7_400+8insC rs797045664
NM_003482.4(KMT2D):c.401-11del rs745388553
NM_003482.4(KMT2D):c.4021-15CT[2] rs55776244
NM_003482.4(KMT2D):c.4083G>C (p.Gln1361His) rs764941
NM_003482.4(KMT2D):c.4131G>C (p.Gln1377His) rs764942
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter) rs1555195441
NM_003482.4(KMT2D):c.4221del (p.Cys1408fs) rs587783715
NM_003482.4(KMT2D):c.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.4(KMT2D):c.4366T>A (p.Cys1456Ser) rs797045666
NM_003482.4(KMT2D):c.4418+5G>A rs587783717
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.4739del (p.Pro1580fs) rs587783719
NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs) rs797045667
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.5592C>A (p.Gly1864=) rs587783720
NM_003482.4(KMT2D):c.5598A>C (p.Pro1866=) rs2120563844
NM_003482.4(KMT2D):c.5713C>T (p.Gln1905Ter) rs2120560322
NM_003482.4(KMT2D):c.6020A>C (p.Glu2007Ala) rs587783722
NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs) rs1555198491
NM_003482.4(KMT2D):c.6086del (p.Pro2029fs) rs587783723
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.6276C>T (p.Asp2092=) rs1388239595
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6613delinsAA (p.Ala2205fs) rs2120542630
NM_003482.4(KMT2D):c.6670_6674del (p.Gly2224fs) rs587783725
NM_003482.4(KMT2D):c.709G>T (p.Glu237Ter) rs1159611979
NM_003482.4(KMT2D):c.7377C>T (p.Ser2459=) rs1208811629
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.7981C>T (p.Leu2661Phe) rs1370465303
NM_003482.4(KMT2D):c.8047-7dup rs200754433
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8317T>C (p.Ser2773Pro) rs1001660551
NM_003482.4(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.4(KMT2D):c.836dup (p.Cys279fs) rs797045670
NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs) rs797045671
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.9347C>T (p.Pro3116Leu) rs1249007323
NM_003482.4(KMT2D):c.9540del (p.Glu3181fs) rs797045672
NM_003482.4(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409

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