ClinVar Miner

List of variants in gene KMT2D reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003482.4(KMT2D):c.13102A>G (p.Thr4368Ala) rs189357192 0.00243
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.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser) rs201336660 0.00165
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.*1041G>T rs563489548 0.00144
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.1797G>A (p.Leu599=) rs113282510 0.00106
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819 0.00085
NM_003482.4(KMT2D):c.6621G>A (p.Ala2207=) rs199896881 0.00077
NM_003482.4(KMT2D):c.1259-13G>A rs373466438 0.00074
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_003482.4(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963 0.00062
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
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.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_003482.4(KMT2D):c.12096C>T (p.Ala4032=) rs370145169 0.00046
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
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.12889T>C (p.Ser4297Pro) rs370243498 0.00031
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.11670C>T (p.Ser3890=) rs376471354 0.00029
NM_003482.4(KMT2D):c.14202C>T (p.Asp4734=) rs200979074 0.00029
NM_003482.4(KMT2D):c.4089C>T (p.Thr1363=) rs369601017 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) rs373414243 0.00025
NM_003482.4(KMT2D):c.682C>G (p.Arg228Gly) rs201994402 0.00025
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_003482.4(KMT2D):c.879G>A (p.Thr293=) rs372915490 0.00022
NM_003482.4(KMT2D):c.12006A>G (p.Pro4002=) rs375116340 0.00021
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00020
NM_003482.4(KMT2D):c.16449C>T (p.Ala5483=) rs372675867 0.00019
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) rs376753331 0.00019
NM_003482.4(KMT2D):c.8068C>T (p.Leu2690=) rs370846697 0.00019
NM_003482.4(KMT2D):c.8079G>A (p.Gln2693=) rs531286372 0.00017
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.4389C>T (p.Thr1463=) rs372775501 0.00013
NM_003482.4(KMT2D):c.8547C>T (p.Ala2849=) rs368381758 0.00013
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831 0.00012
NM_003482.4(KMT2D):c.1793G>A (p.Arg598His) rs377761041 0.00011
NM_003482.4(KMT2D):c.16521+7G>A rs369084808 0.00009
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His) rs566674356 0.00007
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_003482.4(KMT2D):c.9718C>T (p.Leu3240=) rs766458553 0.00007
NM_003482.4(KMT2D):c.10179G>A (p.Pro3393=) rs368612015 0.00006
NM_003482.4(KMT2D):c.1725A>T (p.Pro575=) rs371243627 0.00006
NM_003482.4(KMT2D):c.2236C>T (p.Arg746Trp) rs201896284 0.00006
NM_003482.4(KMT2D):c.2736C>T (p.Pro912=) rs369867316 0.00006
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=) rs758265897 0.00006
NM_003482.4(KMT2D):c.5921C>T (p.Thr1974Met) rs777415982 0.00006
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.3161C>T (p.Pro1054Leu) rs758697574 0.00004
NM_003482.4(KMT2D):c.5007C>T (p.Pro1669=) rs200225974 0.00004
NM_003482.4(KMT2D):c.6323C>T (p.Pro2108Leu) rs774739665 0.00004
NM_003482.4(KMT2D):c.6399C>T (p.Ala2133=) rs771111125 0.00004
NM_003482.4(KMT2D):c.7129C>T (p.Pro2377Ser) rs750933281 0.00004
NM_003482.4(KMT2D):c.8211C>T (p.Thr2737=) rs370558457 0.00004
NM_003482.4(KMT2D):c.9034C>T (p.Leu3012=) rs752355105 0.00004
NM_003482.4(KMT2D):c.9296G>A (p.Arg3099His) rs778257510 0.00004
NM_003482.4(KMT2D):c.1000A>G (p.Asn334Asp) rs375948181 0.00003
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_003482.4(KMT2D):c.13059G>A (p.Pro4353=) rs989061149 0.00003
NM_003482.4(KMT2D):c.6465G>A (p.Ser2155=) rs771164655 0.00003
NM_003482.4(KMT2D):c.7879T>C (p.Tyr2627His) rs748285379 0.00003
NM_003482.4(KMT2D):c.9225G>A (p.Ser3075=) rs764659894 0.00003
NM_003482.4(KMT2D):c.10794G>A (p.Lys3598=) rs775333379 0.00002
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val) rs797045657 0.00002
NM_003482.4(KMT2D):c.16179C>T (p.Thr5393=) rs766403520 0.00002
NM_003482.4(KMT2D):c.4761C>T (p.Phe1587=) rs370775912 0.00002
NM_003482.4(KMT2D):c.7558C>T (p.Arg2520Trp) rs759516070 0.00002
NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) rs772878105 0.00002
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.10926G>A (p.Gln3642=) rs770535654 0.00001
NM_003482.4(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673 0.00001
NM_003482.4(KMT2D):c.11949T>G (p.Thr3983=) rs199578328 0.00001
NM_003482.4(KMT2D):c.12509C>T (p.Pro4170Leu) rs752971744 0.00001
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999 0.00001
NM_003482.4(KMT2D):c.13440C>T (p.Ser4480=) rs771288307 0.00001
NM_003482.4(KMT2D):c.15738C>T (p.Ile5246=) rs1263016051 0.00001
NM_003482.4(KMT2D):c.4558C>T (p.Leu1520=) rs767317933 0.00001
NM_003482.4(KMT2D):c.6324G>A (p.Pro2108=) rs373945547 0.00001
NM_003482.4(KMT2D):c.6609G>A (p.Thr2203=) rs777250293 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003482.4(KMT2D):c.9318C>T (p.Ala3106=) rs751406059 0.00001
NM_003482.4(KMT2D):c.9720G>C (p.Leu3240=) rs370192252 0.00001
NM_003482.4(KMT2D):c.10026C>T (p.Arg3342=)
NM_003482.4(KMT2D):c.10212C>T (p.Asn3404=)
NM_003482.4(KMT2D):c.10294T>C (p.Leu3432=)
NM_003482.4(KMT2D):c.10944G>A (p.Pro3648=)
NM_003482.4(KMT2D):c.11151_11153dup (p.Glu3718dup) rs1592121432
NM_003482.4(KMT2D):c.11214_11237del (p.Gln3738_Gln3745del) rs772340299
NM_003482.4(KMT2D):c.11497C>T (p.Arg3833Trp)
NM_003482.4(KMT2D):c.11680A>C (p.Met3894Leu)
NM_003482.4(KMT2D):c.11695C>A (p.Gln3899Lys)
NM_003482.4(KMT2D):c.12136G>A (p.Gly4046Arg) rs1565775707
NM_003482.4(KMT2D):c.12359G>A (p.Gly4120Asp)
NM_003482.4(KMT2D):c.12708A>G (p.Ala4236=)
NM_003482.4(KMT2D):c.13180C>T (p.Leu4394=)
NM_003482.4(KMT2D):c.13523A>G (p.Asn4508Ser)
NM_003482.4(KMT2D):c.1371C>T (p.Pro457=)
NM_003482.4(KMT2D):c.13890A>C (p.Pro4630=)
NM_003482.4(KMT2D):c.13932A>C (p.Pro4644=)
NM_003482.4(KMT2D):c.14493G>A (p.Lys4831=)
NM_003482.4(KMT2D):c.15078G>T (p.Pro5026=)
NM_003482.4(KMT2D):c.15132T>C (p.Asp5044=) rs1942619118
NM_003482.4(KMT2D):c.15495C>T (p.Ile5165=) rs371422928
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=) rs575965702
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) rs779303083
NM_003482.4(KMT2D):c.16251A>G (p.Leu5417=)
NM_003482.4(KMT2D):c.1731G>A (p.Glu577=)
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.2040G>A (p.Thr680=) rs1361468544
NM_003482.4(KMT2D):c.2223G>A (p.Pro741=)
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_003482.4(KMT2D):c.2532_2585del (p.Glu848_Glu865del) rs1565816105
NM_003482.4(KMT2D):c.2601C>T (p.Pro867=) rs1592153909
NM_003482.4(KMT2D):c.2886T>C (p.Gly962=)
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.3150C>T (p.Ser1050=)
NM_003482.4(KMT2D):c.3294G>T (p.Met1098Ile)
NM_003482.4(KMT2D):c.4177C>T (p.His1393Tyr)
NM_003482.4(KMT2D):c.4964-5C>T
NM_003482.4(KMT2D):c.507A>C (p.Ser169=) rs745801358
NM_003482.4(KMT2D):c.5082T>G (p.Pro1694=)
NM_003482.4(KMT2D):c.5523C>G (p.Ala1841=)
NM_003482.4(KMT2D):c.5967G>A (p.Thr1989=) rs199555915
NM_003482.4(KMT2D):c.5982C>T (p.Asp1994=) rs767771980
NM_003482.4(KMT2D):c.6465G>C (p.Ser2155=)
NM_003482.4(KMT2D):c.6696C>T (p.Gly2232=)
NM_003482.4(KMT2D):c.6783T>C (p.Pro2261=)
NM_003482.4(KMT2D):c.6948G>A (p.Leu2316=)
NM_003482.4(KMT2D):c.6990C>T (p.Pro2330=) rs533716096
NM_003482.4(KMT2D):c.7212C>T (p.Pro2404=)
NM_003482.4(KMT2D):c.7479G>A (p.Gly2493=)
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.8107_8109del (p.Glu2703del) rs771294848
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) rs369429157
NM_003482.4(KMT2D):c.8271T>C (p.Ser2757=) rs759146178
NM_003482.4(KMT2D):c.8775G>A (p.Ala2925=)
NM_003482.4(KMT2D):c.8988T>C (p.Asp2996=)
NM_003482.4(KMT2D):c.9259C>T (p.Arg3087Trp) rs538335897
NM_003482.4(KMT2D):c.9438T>G (p.Ala3146=)
NM_003482.4(KMT2D):c.9558G>A (p.Gly3186=)

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