ClinVar Miner

Variants in gene KMT2D with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 151
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) rs113282510 0.00106
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) rs180784366 0.00056
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.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_003482.4(KMT2D):c.14643+12G>A rs186670730 0.00042
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala) rs376483324 0.00040
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=) rs374724784 0.00031
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00020
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=) rs201219613 0.00019
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys) rs563335387 0.00018
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957 0.00016
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00016
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His) rs377747403 0.00016
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr) rs201089405 0.00015
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) rs200155807 0.00015
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) rs137955659 0.00015
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814 0.00014
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_003482.4(KMT2D):c.5319+3G>A rs372897046 0.00014
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831 0.00012
NM_003482.4(KMT2D):c.6998C>T (p.Pro2333Leu) rs377504041 0.00012
NM_003482.4(KMT2D):c.8339C>T (p.Thr2780Met) rs770978212 0.00012
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.14643+3A>T rs374232950 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=) rs398123738 0.00011
NM_003482.4(KMT2D):c.5084-17A>G rs368795536 0.00011
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827 0.00011
NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu) rs767236217 0.00010
NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His) rs373234419 0.00010
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453 0.00009
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys) rs754060706 0.00009
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) rs766543419 0.00009
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg) rs751367935 0.00008
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His) rs770522446 0.00008
NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His) rs566674356 0.00007
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) rs376227770 0.00007
NM_003482.4(KMT2D):c.5645-3C>T rs544332856 0.00007
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro) rs200998047 0.00007
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln) rs772010347 0.00006
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=) rs370665309 0.00006
NM_003482.4(KMT2D):c.13531-10T>C rs769029919 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.10472G>A (p.Arg3491His) rs757247893 0.00005
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) rs758494772 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=) rs368856357 0.00005
NM_003482.4(KMT2D):c.10741-7A>G rs550510739 0.00004
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797 0.00004
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) rs567323882 0.00004
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714 0.00004
NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475 0.00004
NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu) rs763729848 0.00004
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=) rs534236560 0.00004
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776 0.00004
NM_003482.4(KMT2D):c.16412+13G>A rs587783701 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.6255C>A (p.Asn2085Lys) rs200406127 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.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile) rs756017412 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=) rs748740454 0.00003
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr) rs777604931 0.00003
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp) rs368767696 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_003482.4(KMT2D):c.7526A>G (p.Lys2509Arg) rs1373179700 0.00003
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707 0.00003
NM_003482.4(KMT2D):c.9485G>A (p.Gly3162Asp) rs773802581 0.00003
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val) rs797045657 0.00002
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=) rs532098737 0.00002
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) rs535351117 0.00001
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=) rs771212750 0.00001
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258 0.00001
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu) rs1326092141 0.00001
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999 0.00001
NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys) rs1238014538 0.00001
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr) rs1188206999 0.00001
NM_003482.4(KMT2D):c.14075+8C>T rs962057732 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=) rs975080118 0.00001
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser) rs1938304119 0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser) rs976882824 0.00001
NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile) rs755939422 0.00001
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) rs1368572 0.00001
NM_003482.4(KMT2D):c.5782+1G>A rs766123066 0.00001
NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His) rs374216845 0.00001
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu) rs574231443 0.00001
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=) rs374077422 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) rs3741625 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu) rs398123762 0.00001
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062 0.00001
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val) rs1943073751
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3]) rs771711980
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
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.11819_11836dup (p.Leu3940_Gln3945dup) rs1160407199
NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del) rs886049475
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del) rs771787499
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=) rs727503981
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=) rs727503980
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) rs779303083
NM_003482.4(KMT2D):c.176+15G>A rs1415205254
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) rs398123736
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2860T>C (p.Leu954=) rs398123740
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser)
NM_003482.4(KMT2D):c.4723A>C (p.Met1575Leu) rs762474552
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=) rs727503985
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser) rs1943505364
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)
NM_003482.4(KMT2D):c.8107_8109del (p.Glu2703del) rs771294848
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg) rs1943376258
NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr) rs1555190514
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup) rs768814728
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) rs1291730464

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