ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance for Kabuki syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
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.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
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.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
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.10444C>T (p.Arg3482Trp) rs201127814 0.00014
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.5084-17A>G rs368795536 0.00011
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met) rs376888531 0.00011
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.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.12862C>T (p.Arg4288Trp) rs542331667 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.11347C>G (p.Gln3783Glu) rs752477959 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.14893G>A (p.Ala4965Thr) rs200747934 0.00006
NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr) rs200106242 0.00006
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) rs398123710 0.00005
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser) rs544407449 0.00005
NM_003482.4(KMT2D):c.2798-7C>T rs1161537279 0.00005
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574 0.00005
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) rs35087111 0.00004
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253 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.14519G>A (p.Gly4840Glu) rs1054025123 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.4570C>T (p.Arg1524Cys) rs1411795103 0.00004
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser) rs1324674144 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.9212G>A (p.Arg3071Lys) rs794727574 0.00004
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile) rs200638996 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr) rs777604931 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.6638G>A (p.Gly2213Asp) rs368767696 0.00003
NM_003482.4(KMT2D):c.7249T>G (p.Ser2417Ala) rs1057516188 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.8366+6G>T rs749728191 0.00003
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705 0.00002
NM_003482.4(KMT2D):c.13839+3C>T rs1218915669 0.00002
NM_003482.4(KMT2D):c.251G>A (p.Arg84His) rs780096090 0.00002
NM_003482.4(KMT2D):c.3238G>C (p.Glu1080Gln) rs762541995 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.8405C>T (p.Ala2802Val) rs1239905273 0.00002
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val) rs1299043216 0.00001
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) rs535351117 0.00001
NM_003482.4(KMT2D):c.10868A>G (p.Gln3623Arg) rs1304886930 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.12605A>C (p.Gln4202Pro) rs1276517318 0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) rs750774484 0.00001
NM_003482.4(KMT2D):c.13346T>A (p.Leu4449His) rs757710580 0.00001
NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys) rs1238014538 0.00001
NM_003482.4(KMT2D):c.13715A>G (p.Asn4572Ser) rs777292389 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.14984C>G (p.Thr4995Ser) rs886042207 0.00001
NM_003482.4(KMT2D):c.15707A>G (p.Asn5236Ser) rs1458393564 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.2530C>A (p.Pro844Thr) rs1196290590 0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser) rs976882824 0.00001
NM_003482.4(KMT2D):c.376C>G (p.Pro126Ala) rs1311872208 0.00001
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) rs1368572 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.5423G>A (p.Gly1808Glu) rs765343914 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.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003482.4(KMT2D):c.6902C>T (p.Pro2301Leu) rs1565794840 0.00001
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) rs3741625 0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.8506C>T (p.Arg2836Cys) rs1346754879 0.00001
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg) rs371231725 0.00001
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser) rs746344900 0.00001
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062 0.00001
NM_003482.3(KMT2D):c.1893_1919del (p.Asp632_Glu640del) rs759377845
NM_003482.4(KMT2D):c.10151_10171dup (p.Thr3384_Cys3390dup) rs2120475317
NM_003482.4(KMT2D):c.10346G>T (p.Gly3449Val) rs1439251946
NM_003482.4(KMT2D):c.10357C>G (p.Gln3453Glu)
NM_003482.4(KMT2D):c.10379A>G (p.Gln3460Arg) rs1943129038
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val) rs1943099362
NM_003482.4(KMT2D):c.10640G>A (p.Arg3547His) rs775632051
NM_003482.4(KMT2D):c.10942C>A (p.Pro3648Thr) rs777215324
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val) rs1943073751
NM_003482.4(KMT2D):c.10993C>T (p.Pro3665Ser)
NM_003482.4(KMT2D):c.11170_11190del (p.Gln3724_Leu3730del) rs2120443533
NM_003482.4(KMT2D):c.11202GCA[5] (p.Gln3744_Gln3745del) rs398123707
NM_003482.4(KMT2D):c.11503C>T (p.Leu3835Phe)
NM_003482.4(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.4(KMT2D):c.11568GCA[2] (p.Gln3861_Gln3863del)
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_003482.4(KMT2D):c.11605T>A (p.Ser3869Thr)
NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup) rs944680171
NM_003482.4(KMT2D):c.11717_11752del (p.3900LQQQQQ[1]) rs1415174573
NM_003482.4(KMT2D):c.12038G>A (p.Gly4013Glu) rs1592118836
NM_003482.4(KMT2D):c.1231C>T (p.Pro411Ser) rs1367939301
NM_003482.4(KMT2D):c.12637C>T (p.His4213Tyr) rs1942946917
NM_003482.4(KMT2D):c.12673C>G (p.Leu4225Val) rs949941431
NM_003482.4(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.12992C>A (p.Pro4331His)
NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del) rs771787499
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.137C>G (p.Ser46Cys) rs2120715696
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.14002A>T (p.Thr4668Ser) rs946513897
NM_003482.4(KMT2D):c.14075G>T (p.Arg4692Met) rs1942774184
NM_003482.4(KMT2D):c.14099_14105delinsGTTCTCT (p.Asp4700_Pro4702delinsGlySerLeu)
NM_003482.4(KMT2D):c.14110A>T (p.Ser4704Cys) rs1592110663
NM_003482.4(KMT2D):c.14152G>A (p.Glu4718Lys) rs1942759475
NM_003482.4(KMT2D):c.14529G>T (p.Lys4843Asn) rs764121956
NM_003482.4(KMT2D):c.14905G>A (p.Glu4969Lys) rs1363299847
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15245T>G (p.Val5082Gly) rs75031009
NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro) rs1565759674
NM_003482.4(KMT2D):c.15361G>T (p.Ala5121Ser) rs79330925
NM_003482.4(KMT2D):c.15424T>C (p.Cys5142Arg)
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.15589G>A (p.Ala5197Thr) rs1555185696
NM_003482.4(KMT2D):c.15596_15597delinsGC (p.Phe5199Cys)
NM_003482.4(KMT2D):c.15626G>T (p.Gly5209Val)
NM_003482.4(KMT2D):c.15975_15976delinsTT (p.Leu5326Phe) rs2137710637
NM_003482.4(KMT2D):c.15989C>G (p.Pro5330Arg) rs1942485576
NM_003482.4(KMT2D):c.1603C>T (p.Pro535Ser)
NM_003482.4(KMT2D):c.16211C>G (p.Ser5404Cys) rs1555184837
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.1753C>T (p.Pro585Ser)
NM_003482.4(KMT2D):c.176+15G>A rs1415205254
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.4(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.4(KMT2D):c.2426A>C (p.Gln809Pro) rs1398110011
NM_003482.4(KMT2D):c.2656C>G (p.Pro886Ala) rs199946966
NM_003482.4(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) 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)
NM_003482.4(KMT2D):c.3237_3238delinsCC (p.Glu1080Gln) rs2120649248
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.370C>T (p.Leu124Phe)
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.4160G>T (p.Gly1387Val) rs1555195461
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.4307C>T (p.Ala1436Val) rs2120611836
NM_003482.4(KMT2D):c.432A>G (p.Ala144=) rs1555198633
NM_003482.4(KMT2D):c.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.4(KMT2D):c.4379C>A (p.Pro1460Gln)
NM_003482.4(KMT2D):c.4418+5G>A rs587783717
NM_003482.4(KMT2D):c.4569C>G (p.Cys1523Trp) rs1555194993
NM_003482.4(KMT2D):c.4590G>A (p.Met1530Ile) rs781202455
NM_003482.4(KMT2D):c.4669C>G (p.Gln1557Glu) rs1282795733
NM_003482.4(KMT2D):c.4727A>G (p.Lys1576Arg) rs1943763073
NM_003482.4(KMT2D):c.4766G>A (p.Gly1589Asp) rs1555194524
NM_003482.4(KMT2D):c.4810A>G (p.Thr1604Ala) rs1943716640
NM_003482.4(KMT2D):c.4814T>C (p.Met1605Thr) rs2120589159
NM_003482.4(KMT2D):c.4853T>C (p.Leu1618Pro)
NM_003482.4(KMT2D):c.4877T>C (p.Leu1626Ser)
NM_003482.4(KMT2D):c.5060G>A (p.Arg1687His) rs1183756465
NM_003482.4(KMT2D):c.5267G>A (p.Arg1756Gln) rs908795312
NM_003482.4(KMT2D):c.5681T>A (p.Leu1894His) rs2120560593
NM_003482.4(KMT2D):c.5857C>G (p.Leu1953Val)
NM_003482.4(KMT2D):c.6215G>A (p.Arg2072His) rs748389081
NM_003482.4(KMT2D):c.6692C>T (p.Pro2231Leu)
NM_003482.4(KMT2D):c.7182C>A (p.Ser2394Arg) rs2120531136
NM_003482.4(KMT2D):c.7193T>C (p.Leu2398Pro) rs879792544
NM_003482.4(KMT2D):c.7484C>T (p.Pro2495Leu) rs2120525921
NM_003482.4(KMT2D):c.7538G>A (p.Gly2513Glu) rs1943441906
NM_003482.4(KMT2D):c.7777C>A (p.Pro2593Thr) rs2120520690
NM_003482.4(KMT2D):c.7778C>A (p.Pro2593His)
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
NM_003482.4(KMT2D):c.7883T>C (p.Leu2628Pro) rs1943413102
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)
NM_003482.4(KMT2D):c.805C>G (p.Gln269Glu)
NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His) rs774178055
NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln) rs1943386777
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg) rs1943376258
NM_003482.4(KMT2D):c.8259A>G (p.Pro2753=) rs1592132885
NM_003482.4(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.4(KMT2D):c.8367-3C>A rs1943358511
NM_003482.4(KMT2D):c.8431C>G (p.Gln2811Glu) rs1465332696
NM_003482.4(KMT2D):c.8699C>T (p.Pro2900Leu)
NM_003482.4(KMT2D):c.8765G>C (p.Arg2922Pro) rs757791539
NM_003482.4(KMT2D):c.8767G>T (p.Gly2923Cys) rs988820724
NM_003482.4(KMT2D):c.9178G>A (p.Gly3060Arg)
NM_003482.4(KMT2D):c.91T>C (p.Ser31Pro) rs1938321808
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)
NM_003482.4(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409
NM_003482.4(KMT2D):c.9736C>A (p.Pro3246Thr) rs2120482939
NM_003482.4(KMT2D):c.9791A>G (p.Gln3264Arg)
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup) rs768814728
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) rs1291730464

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