ClinVar Miner

List of variants in gene KMT2D reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 307
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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.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.8046+11A>G rs145186737 0.00640
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.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.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.11141G>A (p.Arg3714Lys) rs186696516 0.00216
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.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
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.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.510+45T>G rs370735843 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.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
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.16599G>A (p.Arg5533=) rs199798179 0.00048
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.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471 0.00034
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=) rs374724784 0.00031
NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=) rs587783721 0.00030
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) rs373414243 0.00025
NM_003482.4(KMT2D):c.9729C>T (p.Ser3243=) rs369959158 0.00024
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_003482.4(KMT2D):c.7629G>A (p.Gly2543=) rs201357509 0.00021
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
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.2838G>A (p.Ala946=) rs376753331 0.00019
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.9343C>T (p.Leu3115Phe) rs587778471 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.192G>A (p.Arg64=) rs375169999 0.00014
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_003482.4(KMT2D):c.4056G>A (p.Glu1352=) rs373063485 0.00014
NM_003482.4(KMT2D):c.5319+3G>A rs372897046 0.00014
NM_003482.4(KMT2D):c.7839G>A (p.Pro2613=) rs370627714 0.00014
NM_003482.4(KMT2D):c.4389C>T (p.Thr1463=) rs372775501 0.00013
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831 0.00012
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.4143G>A (p.Val1381=) rs398123745 0.00011
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827 0.00011
NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser) rs552543556 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.11401A>C (p.Met3801Leu) rs564097272 0.00008
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His) rs770522446 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.2646G>A (p.Leu882=) rs376227770 0.00007
NM_003482.4(KMT2D):c.7201C>T (p.Arg2401Cys) rs748969699 0.00007
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro) rs200998047 0.00007
NM_003482.4(KMT2D):c.11957C>G (p.Ser3986Cys) rs768668663 0.00006
NM_003482.4(KMT2D):c.1305C>T (p.Asn435=) rs1296595611 0.00006
NM_003482.4(KMT2D):c.15200C>T (p.Thr5067Met) rs767962124 0.00006
NM_003482.4(KMT2D):c.15273G>A (p.Lys5091=) rs398123727 0.00006
NM_003482.4(KMT2D):c.2204G>T (p.Cys735Phe) rs772901550 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.5503C>T (p.Arg1835Cys) rs371685892 0.00006
NM_003482.4(KMT2D):c.756C>T (p.His252=) rs398123759 0.00006
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) rs398123710 0.00005
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) rs758494772 0.00005
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=) rs368856357 0.00005
NM_003482.4(KMT2D):c.9135C>T (p.Asp3045=) rs781693014 0.00005
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
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.11180G>A (p.Arg3727His) rs777628634 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.13671+14A>C rs775862454 0.00004
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=) rs534236560 0.00004
NM_003482.4(KMT2D):c.16522-4T>G rs779139301 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.2373G>A (p.Gln791=) rs398123737 0.00004
NM_003482.4(KMT2D):c.5892G>A (p.Pro1964=) rs761930376 0.00004
NM_003482.4(KMT2D):c.6649C>T (p.Arg2217Cys) rs770789888 0.00004
NM_003482.4(KMT2D):c.6739C>T (p.Pro2247Ser) rs794727547 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.7934G>A (p.Arg2645Gln) rs375980443 0.00004
NM_003482.4(KMT2D):c.9212G>A (p.Arg3071Lys) rs794727574 0.00004
NM_003482.4(KMT2D):c.14185C>T (p.Arg4729Trp) rs398123719 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705 0.00002
NM_003482.4(KMT2D):c.13588G>A (p.Asp4530Asn) rs768143170 0.00002
NM_003482.4(KMT2D):c.13997G>T (p.Arg4666Met) rs1044422721 0.00002
NM_003482.4(KMT2D):c.1568C>T (p.Pro523Leu) rs376761356 0.00002
NM_003482.4(KMT2D):c.1781C>T (p.Pro594Leu) rs190079343 0.00002
NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512 0.00002
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=) rs532098737 0.00002
NM_003482.4(KMT2D):c.7229G>A (p.Arg2410Gln) rs587778466 0.00002
NM_003482.4(KMT2D):c.8924G>A (p.Arg2975His) rs770885860 0.00002
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=) rs771212750 0.00001
NM_003482.4(KMT2D):c.12579G>A (p.Thr4193=) rs398123713 0.00001
NM_003482.4(KMT2D):c.13898C>T (p.Ser4633Leu) rs373146997 0.00001
NM_003482.4(KMT2D):c.14984C>G (p.Thr4995Ser) rs886042207 0.00001
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=) rs975080118 0.00001
NM_003482.4(KMT2D):c.1859C>G (p.Pro620Arg) rs369076375 0.00001
NM_003482.4(KMT2D):c.2582C>G (p.Ser861Cys) rs398123739 0.00001
NM_003482.4(KMT2D):c.3405A>G (p.Pro1135=) rs886042311 0.00001
NM_003482.4(KMT2D):c.376C>G (p.Pro126Ala) rs1311872208 0.00001
NM_003482.4(KMT2D):c.4642G>A (p.Asp1548Asn) rs774736686 0.00001
NM_003482.4(KMT2D):c.5899G>A (p.Gly1967Ser) rs886042896 0.00001
NM_003482.4(KMT2D):c.6349C>T (p.Pro2117Ser) rs758476128 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.6699C>T (p.Thr2233=) rs398123754 0.00001
NM_003482.4(KMT2D):c.7251C>T (p.Ser2417=) rs759825289 0.00001
NM_003482.4(KMT2D):c.7456C>T (p.His2486Tyr) rs1292048668 0.00001
NM_003482.4(KMT2D):c.772A>C (p.Thr258Pro) rs1565823019 0.00001
NM_003482.4(KMT2D):c.7795G>A (p.Gly2599Arg) rs398123760 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.878C>T (p.Thr293Met) rs794727860 0.00001
NM_003482.4(KMT2D):c.9502A>G (p.Met3168Val) rs749463020 0.00001
NM_003482.4(KMT2D):c.10232-4C>G rs886043599
NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs) rs398123699
NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=) rs398123700
NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter) rs398123701
NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter) rs398123702
NM_003482.4(KMT2D):c.10850T>G (p.Leu3617Arg) rs794727609
NM_003482.4(KMT2D):c.10889A>G (p.Lys3630Arg) rs794727608
NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter) rs398123704
NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs) rs398123706
NM_003482.4(KMT2D):c.11202GCA[5] (p.Gln3744_Gln3745del) rs398123707
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11214del (p.Gln3738fs) rs1555188885
NM_003482.4(KMT2D):c.11342G>C (p.Ser3781Thr) rs368670448
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup) rs944680171
NM_003482.4(KMT2D):c.11713C>T (p.Gln3905Ter) rs886042253
NM_003482.4(KMT2D):c.11723AGCAAC[1] (p.Gln3910_Gln3911del) rs398123709
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11864_11893del (p.Leu3955_Gln3964del) rs886042299
NM_003482.4(KMT2D):c.11939del (p.Gln3980fs) rs794727610
NM_003482.4(KMT2D):c.12261C>G (p.Ser4087Arg) rs727503982
NM_003482.4(KMT2D):c.12406C>T (p.Gln4136Ter) rs398123711
NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter) rs398123712
NM_003482.4(KMT2D):c.12481del (p.Glu4161fs) rs794727611
NM_003482.4(KMT2D):c.12728A>C (p.Tyr4243Ser) rs886044194
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) rs398123715
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.13324del (p.Ala4442fs) rs886043505
NM_003482.4(KMT2D):c.133del (p.Ser45fs) rs727503990
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=) rs727503981
NM_003482.4(KMT2D):c.13587C>A (p.Ser4529Arg) rs398123717
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13740C>G (p.Gly4580=) rs398123718
NM_003482.4(KMT2D):c.13780dup (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=) rs727503980
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter) rs398123720
NM_003482.4(KMT2D):c.14885dup (p.Pro4963fs) rs797044744
NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs) rs398123722
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser) rs398123723
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15157GACCTG[1] (p.5053DL[1]) rs398123725
NM_003482.4(KMT2D):c.15172del (p.Val5058fs) rs794727689
NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro) rs398123726
NM_003482.4(KMT2D):c.15230T>G (p.Leu5077Arg) rs398123726
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.15274T>C (p.Cys5092Arg) rs886044678
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15559G>C (p.Ala5187Pro) rs775954885
NM_003482.4(KMT2D):c.15640C>A (p.Arg5214Ser) rs398123728
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003482.4(KMT2D):c.15649T>C (p.Trp5217Arg) rs398123730
NM_003482.4(KMT2D):c.15787G>A (p.Val5263Met) rs398123731
NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs) rs398123732
NM_003482.4(KMT2D):c.16109del (p.Gly5370fs) rs398123733
NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs) rs398123735
NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.4(KMT2D):c.16412+16del rs34546217
NM_003482.4(KMT2D):c.16412+1G>T rs794727752
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.16487T>G (p.Ile5496Ser) rs727503978
NM_003482.4(KMT2D):c.177-9_178del rs794727497
NM_003482.4(KMT2D):c.1779A>G (p.Pro593=) rs886042877
NM_003482.4(KMT2D):c.1814_1815del (p.Glu605fs) rs727503989
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.4(KMT2D):c.1966del (p.Leu656fs) rs886042284
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del) rs780334086
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.2264G>A (p.Arg755Gln) rs776110112
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2428_2508del (p.Thr810_Gln836del) rs1555196792
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs) rs1555196720
NM_003482.4(KMT2D):c.2656C>G (p.Pro886Ala) rs199946966
NM_003482.4(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs) rs797044630
NM_003482.4(KMT2D):c.2797+1G>A rs727503988
NM_003482.4(KMT2D):c.2798-7del rs112620957
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.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.3343T>C (p.Phe1115Leu) rs886042898
NM_003482.4(KMT2D):c.4021-15CT[2] rs55776244
NM_003482.4(KMT2D):c.4132-3C>T rs1565809663
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4265G>A (p.Trp1422Ter) rs794727143
NM_003482.4(KMT2D):c.4342T>C (p.Cys1448Arg) rs398123746
NM_003482.4(KMT2D):c.4414A>G (p.Lys1472Glu) rs794727144
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.4485C>G (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.4742-5T>G rs201912948
NM_003482.4(KMT2D):c.4745C>G (p.Pro1582Arg) rs370444484
NM_003482.4(KMT2D):c.477T>G (p.Gly159=) rs398123747
NM_003482.4(KMT2D):c.4813A>T (p.Met1605Leu) rs1279209449
NM_003482.4(KMT2D):c.5084-27C>T rs398123748
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5131A>T (p.Lys1711Ter) rs794727342
NM_003482.4(KMT2D):c.5142T>G (p.Pro1714=) rs794727341
NM_003482.4(KMT2D):c.5423del (p.Gly1808fs) rs794727379
NM_003482.4(KMT2D):c.5645-17C>T rs398123749
NM_003482.4(KMT2D):c.5645-2A>G rs398123750
NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter) rs794727420
NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.4(KMT2D):c.5998C>T (p.Gln2000Ter) rs1565798715
NM_003482.4(KMT2D):c.6266A>T (p.Lys2089Met) rs398123752
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=) rs727503985
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.690A>C (p.Ala230=) rs752905665
NM_003482.4(KMT2D):c.6978C>G (p.Val2326=) rs398123755
NM_003482.4(KMT2D):c.7066C>T (p.Gln2356Ter) rs398123757
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.4(KMT2D):c.7140del (p.Gln2380fs) rs398123758
NM_003482.4(KMT2D):c.7375_7376del (p.Ser2459fs) rs794727548
NM_003482.4(KMT2D):c.7643dup (p.Pro2549fs) rs886043495
NM_003482.4(KMT2D):c.7710C>T (p.Pro2570=) rs727503984
NM_003482.4(KMT2D):c.7764C>G (p.His2588Gln) rs886043697
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter) rs794727549
NM_003482.4(KMT2D):c.8047-7dup rs200754433
NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His) rs774178055
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.4(KMT2D):c.8489G>A (p.Arg2830Gln) rs1271513534
NM_003482.4(KMT2D):c.8794_8795del (p.Gln2932fs) rs1565788703
NM_003482.4(KMT2D):c.9041_9042del (p.Leu3014fs) rs886043252
NM_003482.4(KMT2D):c.9265dup (p.Val3089fs) rs1333678798
NM_003482.4(KMT2D):c.9937_9939delinsA (p.Leu3313fs) rs1555190224

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