ClinVar Miner

List of variants in gene KMT2D reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.4131+245T>C rs79554207 0.02422
NM_003482.4(KMT2D):c.4237-257A>G rs140849071 0.01470
NM_003482.4(KMT2D):c.15784+275C>A rs114640737 0.01430
NM_003482.4(KMT2D):c.4132-53G>C rs116461038 0.01143
NM_003482.4(KMT2D):c.4131+172A>G rs79718340 0.01142
NM_003482.4(KMT2D):c.10440+42C>T rs75381243 0.01129
NM_003482.4(KMT2D):c.16522-63C>T rs12099780 0.00761
NM_003482.4(KMT2D):c.6184-52C>T rs140427340 0.00521
NM_003482.4(KMT2D):c.49+70A>G rs117688382 0.00112
NM_003482.4(KMT2D):c.11313C>A (p.Pro3771=) rs200639395 0.00045
NM_003482.4(KMT2D):c.14251+35T>C rs370628102 0.00043
NM_003482.4(KMT2D):c.4935G>A (p.Leu1645=) rs368977026 0.00031
NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=) rs587783721 0.00030
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) rs141231056 0.00026
NM_003482.4(KMT2D):c.16249C>T (p.Leu5417=) rs200803613 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003482.4(KMT2D):c.8559G>A (p.Pro2853=) rs375344889 0.00026
NM_003482.4(KMT2D):c.10423G>A (p.Ala3475Thr) rs370434981 0.00024
NM_003482.4(KMT2D):c.15784+14C>T rs201007975 0.00024
NM_003482.4(KMT2D):c.9729C>T (p.Ser3243=) rs369959158 0.00024
NM_003482.4(KMT2D):c.7060C>T (p.Pro2354Ser) rs369458206 0.00023
NM_003482.4(KMT2D):c.879G>A (p.Thr293=) rs372915490 0.00022
NM_003482.4(KMT2D):c.1080C>T (p.Ser360=) rs369427465 0.00021
NM_003482.4(KMT2D):c.12006A>G (p.Pro4002=) rs375116340 0.00021
NM_003482.4(KMT2D):c.13524C>T (p.Asn4508=) rs199676066 0.00021
NM_003482.4(KMT2D):c.6183+28G>A rs150484991 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.8068C>T (p.Leu2690=) rs370846697 0.00019
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys) rs563335387 0.00018
NM_003482.4(KMT2D):c.13433G>A (p.Arg4478Gln) rs200156008 0.00017
NM_003482.4(KMT2D):c.6901C>T (p.Pro2301Ser) rs200681496 0.00017
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957 0.00016
NM_003482.4(KMT2D):c.626C>T (p.Thr209Ile) rs373972024 0.00016
NM_003482.4(KMT2D):c.8481C>T (p.Thr2827=) rs371426893 0.00016
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His) rs377747403 0.00016
NM_003482.4(KMT2D):c.11916G>A (p.Gln3972=) rs371224852 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.15558C>T (p.His5186=) rs2024 0.00013
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831 0.00012
NM_003482.4(KMT2D):c.8339C>T (p.Thr2780Met) rs770978212 0.00012
NM_003482.4(KMT2D):c.13780G>C (p.Ala4594Pro) rs545972414 0.00011
NM_003482.4(KMT2D):c.13795G>A (p.Ala4599Thr) rs201879072 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.2250G>A (p.Pro750=) rs180809568 0.00011
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827 0.00011
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453 0.00009
NM_003482.4(KMT2D):c.4583+31C>G rs370624937 0.00009
NM_003482.4(KMT2D):c.4693+24G>T rs369033057 0.00009
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg) rs751367935 0.00008
NM_003482.4(KMT2D):c.14496G>T (p.Lys4832Asn) rs557710880 0.00007
NM_003482.4(KMT2D):c.15222C>T (p.Gly5074=) rs762896655 0.00007
NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His) rs566674356 0.00007
NM_003482.4(KMT2D):c.4693+39A>T rs377057640 0.00007
NM_003482.4(KMT2D):c.6319C>A (p.Pro2107Thr) rs201977719 0.00007
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro) rs200998047 0.00007
NM_003482.4(KMT2D):c.9379C>T (p.Arg3127Cys) rs748336297 0.00007
NM_003482.4(KMT2D):c.10024C>T (p.Arg3342Cys) rs371869550 0.00006
NM_003482.4(KMT2D):c.11550C>T (p.His3850=) rs958585817 0.00006
NM_003482.4(KMT2D):c.13103C>A (p.Thr4368Asn) rs200789125 0.00006
NM_003482.4(KMT2D):c.13531-10T>C rs769029919 0.00006
NM_003482.4(KMT2D):c.1725A>T (p.Pro575=) rs371243627 0.00006
NM_003482.4(KMT2D):c.213C>T (p.Cys71=) rs372109249 0.00006
NM_003482.4(KMT2D):c.3134C>T (p.Pro1045Leu) rs376896214 0.00006
NM_003482.4(KMT2D):c.3389C>T (p.Ala1130Val) rs149257543 0.00006
NM_003482.4(KMT2D):c.4694-4A>G rs372092587 0.00006
NM_003482.4(KMT2D):c.7354C>T (p.Arg2452Cys) rs181112866 0.00006
NM_003482.4(KMT2D):c.7499C>T (p.Ala2500Val) rs369604891 0.00006
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) rs758494772 0.00005
NM_003482.4(KMT2D):c.2184A>G (p.Leu728=) rs369591408 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003482.4(KMT2D):c.6396C>T (p.Pro2132=) rs746085488 0.00005
NM_003482.4(KMT2D):c.7367G>A (p.Arg2456His) rs370115365 0.00005
NM_003482.4(KMT2D):c.10806A>G (p.Gln3602=) rs769354644 0.00004
NM_003482.4(KMT2D):c.11127C>T (p.Leu3709=) rs780547684 0.00004
NM_003482.4(KMT2D):c.12252T>C (p.Pro4084=) rs375015236 0.00004
NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475 0.00004
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser) rs779247029 0.00004
NM_003482.4(KMT2D):c.13559C>T (p.Pro4520Leu) rs374531508 0.00004
NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu) rs763729848 0.00004
NM_003482.4(KMT2D):c.2104C>T (p.Pro702Ser) rs373229483 0.00004
NM_003482.4(KMT2D):c.3016G>C (p.Gly1006Arg) rs781358154 0.00004
NM_003482.4(KMT2D):c.6255C>A (p.Asn2085Lys) rs200406127 0.00004
NM_003482.4(KMT2D):c.7559G>A (p.Arg2520Gln) rs369965791 0.00004
NM_003482.4(KMT2D):c.7570A>G (p.Thr2524Ala) rs200429932 0.00004
NM_003482.4(KMT2D):c.10249G>A (p.Ala3417Thr) rs761409666 0.00003
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_003482.4(KMT2D):c.13629C>T (p.Asp4543=) rs748135755 0.00003
NM_003482.4(KMT2D):c.14250A>T (p.Pro4750=) rs766829760 0.00003
NM_003482.4(KMT2D):c.4695G>A (p.Ala1565=) rs368762696 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.5320-9G>C rs773104685 0.00003
NM_003482.4(KMT2D):c.6519G>A (p.Ser2173=) rs759939367 0.00003
NM_003482.4(KMT2D):c.7379G>A (p.Arg2460His) rs774358086 0.00003
NM_003482.4(KMT2D):c.8904G>A (p.Pro2968=) rs767700267 0.00003
NM_003482.4(KMT2D):c.9485G>A (p.Gly3162Asp) rs773802581 0.00003
NM_003482.4(KMT2D):c.11794C>G (p.Gln3932Glu) rs958331584 0.00002
NM_003482.4(KMT2D):c.14071G>A (p.Val4691Ile) rs762462902 0.00002
NM_003482.4(KMT2D):c.2277A>G (p.Pro759=) rs1358870319 0.00002
NM_003482.4(KMT2D):c.3074C>T (p.Ser1025Leu) rs746163543 0.00002
NM_003482.4(KMT2D):c.4162C>T (p.Arg1388Trp) rs767110613 0.00002
NM_003482.4(KMT2D):c.5084-7C>T rs1175678091 0.00002
NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met) rs770692765 0.00002
NM_003482.4(KMT2D):c.7503G>A (p.Gly2501=) rs565210702 0.00002
NM_003482.4(KMT2D):c.10148G>A (p.Gly3383Asp) rs776462586 0.00001
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) rs535351117 0.00001
NM_003482.4(KMT2D):c.10482G>A (p.Pro3494=) rs777636844 0.00001
NM_003482.4(KMT2D):c.109C>T (p.His37Tyr) rs1243381790 0.00001
NM_003482.4(KMT2D):c.11299C>G (p.Gln3767Glu) rs776808398 0.00001
NM_003482.4(KMT2D):c.11325C>T (p.Gly3775=) rs758530825 0.00001
NM_003482.4(KMT2D):c.11949T>G (p.Thr3983=) rs199578328 0.00001
NM_003482.4(KMT2D):c.1256T>G (p.Leu419Arg) rs754226909 0.00001
NM_003482.4(KMT2D):c.12686G>A (p.Arg4229Gln) rs753607446 0.00001
NM_003482.4(KMT2D):c.1396C>T (p.Arg466Cys) rs201512665 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_003482.4(KMT2D):c.15279C>T (p.Ser5093=) rs1039364060 0.00001
NM_003482.4(KMT2D):c.15975C>T (p.Pro5325=) rs780850935 0.00001
NM_003482.4(KMT2D):c.1601C>T (p.Thr534Met) rs946192879 0.00001
NM_003482.4(KMT2D):c.2112C>T (p.Asp704=) rs1231395599 0.00001
NM_003482.4(KMT2D):c.2132C>T (p.Pro711Leu) rs893615522 0.00001
NM_003482.4(KMT2D):c.2868G>C (p.Glu956Asp) rs1057523642 0.00001
NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile) rs755939422 0.00001
NM_003482.4(KMT2D):c.400+17G>T rs781143750 0.00001
NM_003482.4(KMT2D):c.5587C>T (p.Pro1863Ser) rs750400711 0.00001
NM_003482.4(KMT2D):c.5820A>G (p.Pro1940=) rs372910439 0.00001
NM_003482.4(KMT2D):c.6441G>A (p.Ala2147=) rs763357891 0.00001
NM_003482.4(KMT2D):c.7169C>T (p.Pro2390Leu) rs866926540 0.00001
NM_003482.4(KMT2D):c.7604G>A (p.Arg2535His) rs756461524 0.00001
NM_003482.4(KMT2D):c.7696T>C (p.Phe2566Leu) rs200601740 0.00001
NM_003482.4(KMT2D):c.783T>C (p.Thr261=) rs1043194235 0.00001
NM_003482.4(KMT2D):c.7926C>T (p.Val2642=) rs368249592 0.00001
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu) rs398123762 0.00001
NM_003482.4(KMT2D):c.10785T>C (p.Tyr3595=) rs1592122610
NM_003482.4(KMT2D):c.10794GCA[2] (p.Gln3612del) rs765850235
NM_003482.4(KMT2D):c.11226GCA[5] (p.Gln3745dup) rs760816616
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_003482.4(KMT2D):c.11819_11836dup (p.Leu3940_Gln3945dup) rs1160407199
NM_003482.4(KMT2D):c.11856A>G (p.Gln3952=) rs1943000692
NM_003482.4(KMT2D):c.12557C>T (p.Pro4186Leu)
NM_003482.4(KMT2D):c.12650AGC[6] (p.Gln4221dup) rs754290613
NM_003482.4(KMT2D):c.12974C>T (p.Ser4325Phe)
NM_003482.4(KMT2D):c.13095T>C (p.Leu4365=) rs767751775
NM_003482.4(KMT2D):c.13331G>C (p.Gly4444Ala) rs748820389
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=) rs727503981
NM_003482.4(KMT2D):c.13451G>A (p.Arg4484Gln) rs1480605988
NM_003482.4(KMT2D):c.13531-11A>C rs1592114684
NM_003482.4(KMT2D):c.13881C>G (p.Pro4627=) rs757351847
NM_003482.4(KMT2D):c.14000-200dup rs796401408
NM_003482.4(KMT2D):c.14748G>C (p.Pro4916=) rs769171629
NM_003482.4(KMT2D):c.1517C>A (p.Pro506Gln) rs367925817
NM_003482.4(KMT2D):c.1542A>G (p.Pro514=) rs1217731597
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) rs779303083
NM_003482.4(KMT2D):c.15785-11del
NM_003482.4(KMT2D):c.15785-320_15785-309del rs367833867
NM_003482.4(KMT2D):c.1911_1937del (p.Glu641_Glu649del) rs773977533
NM_003482.4(KMT2D):c.2532_2585del (p.Glu848_Glu865del) rs1565816105
NM_003482.4(KMT2D):c.2588G>A (p.Arg863Gln) rs747921601
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.401-11del rs745388553
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.4646A>T (p.Glu1549Val) rs1943772853
NM_003482.4(KMT2D):c.4741+276del rs559720363
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.4(KMT2D):c.8521C>G (p.Pro2841Ala)
NM_003482.4(KMT2D):c.9405C>G (p.Thr3135=) rs376141976
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup) rs768814728

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.