ClinVar Miner

Variants with conflicting interpretations studied for Kabuki syndrome 1

Coded as:
Minimum review status of the submission for Kabuki syndrome 1: Collection method of the submission for Kabuki syndrome 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
616 124 0 81 138 0 16 228

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Kabuki syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 39 2 1 1
likely pathogenic 48 0 8 2 3
uncertain significance 4 7 0 56 75
likely benign 0 1 10 0 26
benign 0 0 2 6 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Kabuki syndrome 0 106 0 60 138 0 13 205
Kabuki syndrome 1 863 58 0 38 3 0 7 47

All variants with conflicting interpretations #

Total variants: 228
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00371
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00296
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00269
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00220
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944 0.00196
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00153
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00125
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00122
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) rs192659833 0.00117
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00100
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) rs180784366 0.00055
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00054
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00045
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471 0.00034
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00028
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) rs141231056 0.00026
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His) rs377747403 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814 0.00014
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met) rs376888531 0.00011
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp) rs542331667 0.00010
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.5084-17A>G rs368795536 0.00010
NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His) rs373234419 0.00010
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 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.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.5645-3C>T rs544332856 0.00007
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
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.14893G>A (p.Ala4965Thr) rs200747934 0.00006
NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr) rs200106242 0.00006
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu) rs752477959 0.00005
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser) rs544407449 0.00005
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu) rs1054025123 0.00005
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) rs3741625 0.00005
NM_003482.4(KMT2D):c.8011G>A (p.Gly2671Ser) rs762567167 0.00005
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) rs35087111 0.00004
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser) rs779247029 0.00004
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr) rs767232021 0.00004
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455 0.00004
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser) rs1324674144 0.00004
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574 0.00004
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu) rs779629382 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.7610C>T (p.Thr2537Ile) rs371489510 0.00004
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_003482.4(KMT2D):c.16412+13G>A rs587783701 0.00003
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr) rs777604931 0.00003
NM_003482.4(KMT2D):c.6362C>T (p.Ala2121Val) rs765985953 0.00003
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val) rs764604229 0.00003
NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409 0.00003
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707 0.00003
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253 0.00002
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00002
NM_003482.4(KMT2D):c.251G>A (p.Arg84His) rs780096090 0.00002
NM_003482.4(KMT2D):c.4031T>C (p.Ile1344Thr) rs756747399 0.00002
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393 0.00002
NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met) rs770692765 0.00002
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726 0.00002
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln) rs754609531 0.00002
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273 0.00002
NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp) rs750484458 0.00002
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) rs1291730464 0.00002
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val) rs1299043216 0.00001
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) rs535351117 0.00001
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val) rs1943073751 0.00001
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705 0.00001
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258 0.00001
NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser) rs1342235871 0.00001
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu) rs1326092141 0.00001
NM_003482.4(KMT2D):c.12461G>A (p.Gly4154Asp) rs775284012 0.00001
NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala) rs532360713 0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) rs750774484 0.00001
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr) rs911322619 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.1408C>T (p.Pro470Ser) rs761594079 0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe) rs771209224 0.00001
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His) rs587783694 0.00001
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys) rs781012274 0.00001
NM_003482.4(KMT2D):c.14971C>T (p.Arg4991Trp) rs1427665021 0.00001
NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser) rs943690439 0.00001
NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg) rs1942591901 0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His) rs745599611 0.00001
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu) rs776242478 0.00001
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser) rs1938304119 0.00001
NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu) rs371342351 0.00001
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003482.4(KMT2D):c.2530C>A (p.Pro844Thr) rs1196290590 0.00001
NM_003482.4(KMT2D):c.2771C>T (p.Ser924Phe) rs768627183 0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser) rs976882824 0.00001
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu) rs765863571 0.00001
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His) rs1266718915 0.00001
NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp) rs754797404 0.00001
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) rs1368572 0.00001
NM_003482.4(KMT2D):c.4724T>C (p.Met1575Thr) rs1555194803 0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn) rs779260688 0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458 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.6314G>A (p.Arg2105His) rs772506992 0.00001
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp) rs368767696 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865 0.00001
NM_003482.4(KMT2D):c.7538G>A (p.Gly2513Glu) rs1943441906 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His) rs774178055 0.00001
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg) rs371231725 0.00001
NM_003482.4(KMT2D):c.9101A>G (p.Asn3034Ser) rs748817042 0.00001
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser) rs746344900 0.00001
NM_003482.4(KMT2D):c.9377G>T (p.Gly3126Val) rs772418918 0.00001
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062 0.00001
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp) rs772446794 0.00001
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.4(KMT2D):c.11142G>C (p.Arg3714Ser) rs1943062296
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.4(KMT2D):c.11846AACAGCAGC[1] (p.Gln3952_Gln3954del) rs765742357
NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile) rs1304208223
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.12688C>T (p.Gln4230Ter) rs793888511
NM_003482.4(KMT2D):c.12700_12701del (p.Gln4235fs) rs1942942020
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser) rs761270194
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del) rs771787499
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13507C>T (p.Gln4503Ter) rs2498349642
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14086G>A (p.Asp4696Asn) rs2120394528
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.14251+1G>C rs2120390748
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp) rs768551828
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_003482.4(KMT2D):c.16118A>G (p.Asn5373Ser)
NM_003482.4(KMT2D):c.16149dup (p.Lys5384fs) rs2499026487
NM_003482.4(KMT2D):c.16338+1G>T rs1555184782
NM_003482.4(KMT2D):c.16338+2T>C rs1555184777
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.4(KMT2D):c.176+15G>A rs1415205254
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala) rs372919446
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.2992C>G (p.Pro998Ala) rs143711798
NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser) rs143711798
NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser) rs2120652049
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala) rs772169265
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.3649dup (p.Ser1217fs) rs1555196084
NM_003482.4(KMT2D):c.4020+1G>A
NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=) rs764942
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln) rs202217665
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4840C>T (p.Arg1614Trp) rs375118713
NM_003482.4(KMT2D):c.4853T>C (p.Leu1618Pro) rs1436813824
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu) rs765343914
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser) rs1943505364
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys) rs1324342513
NM_003482.4(KMT2D):c.8027_8028del (p.Glu2676fs) rs1555191665
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg) rs1943376258
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003482.4(KMT2D):c.8396A>G (p.Tyr2799Cys) rs1356426477
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter) rs1592159924
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
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.9961C>T (p.Arg3321Ter) rs793888512

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