ClinVar Miner

List of variants in gene KMT2D reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.14644-74C>G rs833817 0.97642
NM_003482.4(KMT2D):c.4741+44G>A rs833818 0.97564
NM_003482.4(KMT2D):c.14383-170T>C rs10875914 0.43943
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.16053-286A>G rs10875912 0.34362
NM_003482.4(KMT2D):c.15784+288C>G rs11168827 0.31579
NM_003482.4(KMT2D):c.4741+182T>C rs34436857 0.28319
NM_003482.4(KMT2D):c.5645-63T>C rs12580349 0.28259
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) rs3741622 0.25778
NM_003482.4(KMT2D):c.13671+60C>T rs11614738 0.25705
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.6110-41G>A rs78966570 0.04898
NM_003482.4(KMT2D):c.13531-49G>A rs77980064 0.04897
NM_003482.4(KMT2D):c.4742-315C>T rs79330276 0.04885
NM_003482.4(KMT2D):c.14251+49C>T rs11168828 0.04360
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.4964-42A>G rs12304391 0.04037
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.4131+263C>T rs56026363 0.02432
NM_003482.4(KMT2D):c.5467+19A>C rs78764337 0.02428
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.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=) rs148457961 0.00394
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_003482.4(KMT2D):c.10741-42G>A rs150875973 0.00307
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.14766A>C (p.Ala4922=) rs746226267 0.00258
NM_003482.4(KMT2D):c.13102A>G (p.Thr4368Ala) rs189357192 0.00243
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.6752C>T (p.Ser2251Leu) rs189199944 0.00200
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.14382+20C>T rs114500210 0.00178
NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser) rs201336660 0.00165
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.4742-43G>A rs182884911 0.00158
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.6184-39C>A rs151242939 0.00144
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
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.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) rs113282510 0.00106
NM_003482.4(KMT2D):c.13840-24A>C rs148365230 0.00101
NM_003482.4(KMT2D):c.4419-48A>G rs374258332 0.00101
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.4237-38C>T rs202208828 0.00092
NM_003482.4(KMT2D):c.510+45T>G rs370735843 0.00091
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819 0.00085
NM_003482.4(KMT2D):c.10045A>G (p.Met3349Val) rs80149580 0.00083
NM_003482.4(KMT2D):c.1258+3G>A rs368687683 0.00079
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_003482.4(KMT2D):c.6621G>A (p.Ala2207=) rs199896881 0.00077
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_003482.4(KMT2D):c.1259-13G>A rs373466438 0.00074
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_003482.4(KMT2D):c.10809G>A (p.Gln3603=) rs1555189181 0.00072
NM_003482.4(KMT2D):c.11583A>G (p.Gln3861=) rs878924583 0.00071
NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val) rs200943206 0.00068
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_003482.4(KMT2D):c.14779A>C (p.Ser4927Arg) rs1165012136 0.00063
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_003482.4(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963 0.00062
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 0.00062
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
NM_003482.4(KMT2D):c.6579G>A (p.Pro2193=) rs556666267 0.00058
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.511-28C>A rs376086299 0.00054
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=) rs377392943 0.00053
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser) rs200089754 0.00053
NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=) rs189571290 0.00052
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro) rs200429063 0.00051
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_003482.4(KMT2D):c.12096C>T (p.Ala4032=) rs370145169 0.00046
NM_003482.4(KMT2D):c.10356-25T>C rs368444299 0.00043
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
NM_003482.4(KMT2D):c.14643+12G>A rs186670730 0.00042
NM_003482.4(KMT2D):c.3181G>T (p.Val1061Leu) rs200450910 0.00042
NM_003482.4(KMT2D):c.3180G>T (p.Lys1060Asn) rs201568916 0.00041
NM_003482.4(KMT2D):c.14761T>C (p.Leu4921=) rs1167691910 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003482.4(KMT2D):c.5645-29C>G rs200510848 0.00039
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_003482.4(KMT2D):c.10392G>A (p.Gly3464=) rs367726813 0.00036
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_003482.4(KMT2D):c.711G>A (p.Glu237=) rs192397485 0.00036
NM_003482.4(KMT2D):c.177-49A>C rs192501095 0.00035
NM_003482.4(KMT2D):c.11826A>G (p.Gln3942=) rs112586166 0.00034
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_003482.4(KMT2D):c.15019C>T (p.Arg5007Trp) rs201855029 0.00029
NM_003482.4(KMT2D):c.4131+35G>A rs146854102 0.00029
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050 0.00028
NM_003482.4(KMT2D):c.7607T>C (p.Phe2536Ser) rs199628497 0.00028
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566 0.00026
NM_003482.4(KMT2D):c.4089C>T (p.Thr1363=) rs369601017 0.00026
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) rs373414243 0.00025
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_003482.4(KMT2D):c.3045C>T (p.Ile1015=) rs370440607 0.00023
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_003482.4(KMT2D):c.5913C>T (p.Ser1971=) rs548965753 0.00021
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=) rs201219613 0.00019
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) rs376753331 0.00019
NM_003482.4(KMT2D):c.2220G>T (p.Gly740=) rs368986210 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) rs137955659 0.00015
NM_003482.4(KMT2D):c.10433G>A (p.Ser3478Asn) rs748281405 0.00011
NM_003482.4(KMT2D):c.4143G>A (p.Val1381=) rs398123745 0.00011
NM_003482.4(KMT2D):c.8813C>T (p.Pro2938Leu) rs142395705 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.2206C>T (p.Pro736Ser) rs552543556 0.00010
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) rs138227815 0.00010
NM_003482.4(KMT2D):c.984G>A (p.Ala328=) rs760364650 0.00010
NM_003482.4(KMT2D):c.4395C>T (p.Pro1465=) rs574333340 0.00009
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_003482.4(KMT2D):c.8047-35A>G rs201138648 0.00009
NM_003482.4(KMT2D):c.955-24G>T rs201166677 0.00009
NM_003482.4(KMT2D):c.16412+32G>A rs201320412 0.00008
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.1112+19C>T rs398123703 0.00007
NM_003482.4(KMT2D):c.5645-3C>T rs544332856 0.00007
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.5386C>T (p.Arg1796Trp) rs186948725 0.00006
NM_003482.4(KMT2D):c.8907G>A (p.Ser2969=) rs774595668 0.00006
NM_003482.4(KMT2D):c.4583+10T>C rs537765057 0.00005
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714 0.00004
NM_003482.4(KMT2D):c.176+40G>A rs773974527 0.00004
NM_003482.4(KMT2D):c.9296G>A (p.Arg3099His) rs778257510 0.00004
NM_003482.4(KMT2D):c.10206G>C (p.Leu3402=) rs776321392 0.00003
NM_003482.4(KMT2D):c.10469C>T (p.Pro3490Leu) rs376980951 0.00003
NM_003482.4(KMT2D):c.12084C>T (p.Thr4028=) rs553360102 0.00003
NM_003482.4(KMT2D):c.13587C>T (p.Ser4529=) rs398123717 0.00003
NM_003482.4(KMT2D):c.4419-42G>A rs777830684 0.00002
NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512 0.00002
NM_003482.4(KMT2D):c.6109+48T>C rs200388908 0.00002
NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) rs772878105 0.00002
NM_003482.4(KMT2D):c.10909C>A (p.Pro3637Thr) rs775182190 0.00001
NM_003482.4(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673 0.00001
NM_003482.4(KMT2D):c.14747C>T (p.Pro4916Leu) rs529656123 0.00001
NM_003482.4(KMT2D):c.16115C>G (p.Thr5372Ser) rs779587030 0.00001
NM_003482.4(KMT2D):c.6704G>A (p.Arg2235Lys) rs551403860 0.00001
NM_003482.4(KMT2D):c.9720G>C (p.Leu3240=) rs370192252 0.00001
NM_003482.4(KMT2D):c.10441-9T>A rs572158148
NM_003482.4(KMT2D):c.10812_10832dup (p.Gln3606_Gln3612dup) rs772217807
NM_003482.4(KMT2D):c.1113-68C>A rs111271133
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.12944A>G (p.Gln4315Arg) rs758018148
NM_003482.4(KMT2D):c.12999G>T (p.Glu4333Asp) rs767696694
NM_003482.4(KMT2D):c.13531-61_13531-58del rs150012622
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13840-8dup rs746536071
NM_003482.4(KMT2D):c.13840-9A>C rs771568097
NM_003482.4(KMT2D):c.14000-202del rs33963995
NM_003482.4(KMT2D):c.14000-203_14000-202del rs33963995
NM_003482.4(KMT2D):c.14000-260C>T rs876333
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=) rs575965702
NM_003482.4(KMT2D):c.15784+95A>G rs78828027
NM_003482.4(KMT2D):c.16412+16del rs34546217
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.1961C>A (p.Ser654Tyr) rs747101567
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del) rs780334086
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2477C>A (p.Pro826His) rs542972001
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2694_2708del (p.Ala899_Pro903del) rs759557020
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.3408G>A (p.Glu1136=) rs372234918
NM_003482.4(KMT2D):c.4021-15CT[2] rs55776244
NM_003482.4(KMT2D):c.4131+131G>T rs111923414
NM_003482.4(KMT2D):c.4131+83dup rs5798089
NM_003482.4(KMT2D):c.4236+21G>T rs376916948
NM_003482.4(KMT2D):c.4741+259_4741+260dup rs559720363
NM_003482.4(KMT2D):c.4741+259dup rs559720363
NM_003482.4(KMT2D):c.5533+29G>A rs145103774
NM_003482.4(KMT2D):c.5967G>A (p.Thr1989=) rs199555915
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.8047-7dup rs200754433
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) rs369429157
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761

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