ClinVar Miner

List of variants in gene KMT2D reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 292
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819 0.00085
NM_003482.4(KMT2D):c.1258+3G>A rs368687683 0.00079
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser) rs200089754 0.00053
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_003482.4(KMT2D):c.3028G>A (p.Gly1010Arg) rs367724004 0.00023
NM_003482.4(KMT2D):c.13433G>A (p.Arg4478Gln) rs200156008 0.00017
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957 0.00016
NM_003482.4(KMT2D):c.5319+3G>A rs372897046 0.00014
NM_003482.4(KMT2D):c.11124C>G (p.Ser3708Arg) rs773713199 0.00011
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.1793G>A (p.Arg598His) rs377761041 0.00011
NM_003482.4(KMT2D):c.10445G>A (p.Arg3482Gln) rs371223664 0.00009
NM_003482.4(KMT2D):c.13930C>G (p.Pro4644Ala) rs760535684 0.00009
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His) rs770522446 0.00008
NM_003482.4(KMT2D):c.14496G>T (p.Lys4832Asn) rs557710880 0.00007
NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His) rs566674356 0.00007
NM_003482.4(KMT2D):c.6319C>A (p.Pro2107Thr) rs201977719 0.00007
NM_003482.4(KMT2D):c.9709G>A (p.Glu3237Lys) rs886049479 0.00007
NM_003482.4(KMT2D):c.15200C>T (p.Thr5067Met) rs767962124 0.00006
NM_003482.4(KMT2D):c.5386C>T (p.Arg1796Trp) rs186948725 0.00006
NM_003482.4(KMT2D):c.5921C>T (p.Thr1974Met) rs777415982 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.13058C>T (p.Pro4353Leu) rs778418522 0.00005
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) rs758494772 0.00005
NM_003482.4(KMT2D):c.7136C>T (p.Ala2379Val) rs200842315 0.00005
NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln) rs375999143 0.00004
NM_003482.4(KMT2D):c.3016G>C (p.Gly1006Arg) rs781358154 0.00004
NM_003482.4(KMT2D):c.6416C>T (p.Ala2139Val) rs754730634 0.00004
NM_003482.4(KMT2D):c.6446C>T (p.Ser2149Leu) rs765486613 0.00004
NM_003482.4(KMT2D):c.6739C>T (p.Pro2247Ser) rs794727547 0.00004
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu) rs779629382 0.00004
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr) rs752428122 0.00004
NM_003482.4(KMT2D):c.10249G>A (p.Ala3417Thr) rs761409666 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307 0.00003
NM_003482.4(KMT2D):c.9485G>A (p.Gly3162Asp) rs773802581 0.00003
NM_003482.4(KMT2D):c.2481A>C (p.Gln827His) rs748254982 0.00002
NM_003482.4(KMT2D):c.7332C>A (p.Phe2444Leu) rs1252563449 0.00002
NM_003482.4(KMT2D):c.7390G>A (p.Ala2464Thr) rs1205815044 0.00002
NM_003482.4(KMT2D):c.7558C>T (p.Arg2520Trp) rs759516070 0.00002
NM_003482.4(KMT2D):c.10416C>G (p.Asn3472Lys) rs773424975 0.00001
NM_003482.4(KMT2D):c.10471C>G (p.Arg3491Gly) rs902898516 0.00001
NM_003482.4(KMT2D):c.106C>T (p.Pro36Ser) rs954226380 0.00001
NM_003482.4(KMT2D):c.10987G>A (p.Ala3663Thr) rs587778476 0.00001
NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser) rs1342235871 0.00001
NM_003482.4(KMT2D):c.11875C>A (p.Gln3959Lys) rs587778473 0.00001
NM_003482.4(KMT2D):c.12686G>A (p.Arg4229Gln) rs753607446 0.00001
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr) rs1188206999 0.00001
NM_003482.4(KMT2D):c.1970C>T (p.Pro657Leu) rs779943229 0.00001
NM_003482.4(KMT2D):c.2420C>A (p.Ser807Tyr) rs757089451 0.00001
NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile) rs755939422 0.00001
NM_003482.4(KMT2D):c.3280C>T (p.Leu1094Phe) rs1053550290 0.00001
NM_003482.4(KMT2D):c.5192T>C (p.Ile1731Thr) rs970144947 0.00001
NM_003482.4(KMT2D):c.5248_5250del (p.Glu1750del) rs1403096314 0.00001
NM_003482.4(KMT2D):c.6223A>C (p.Lys2075Gln) rs1449262096 0.00001
NM_003482.4(KMT2D):c.6510A>C (p.Gln2170His) rs753121118 0.00001
NM_003482.4(KMT2D):c.6935C>T (p.Ser2312Leu) rs949690934 0.00001
NM_003482.4(KMT2D):c.7642A>G (p.Lys2548Glu) rs575775792 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.878C>T (p.Thr293Met) rs794727860 0.00001
NM_003482.4(KMT2D):c.9328C>T (p.Arg3110Cys) rs773164595 0.00001
NM_003482.4(KMT2D):c.970C>T (p.Arg324Trp) rs1370093761 0.00001
NM_003482.4(KMT2D):c.1002T>A (p.Asn334Lys)
NM_003482.4(KMT2D):c.10100T>C (p.Leu3367Ser)
NM_003482.4(KMT2D):c.10123C>T (p.Pro3375Ser)
NM_003482.4(KMT2D):c.10195C>G (p.Gln3399Glu)
NM_003482.4(KMT2D):c.10262T>C (p.Ile3421Thr)
NM_003482.4(KMT2D):c.1033C>G (p.Leu345Val)
NM_003482.4(KMT2D):c.10451C>T (p.Ala3484Val)
NM_003482.4(KMT2D):c.10508-3C>T
NM_003482.4(KMT2D):c.1078T>C (p.Ser360Pro) rs763806964
NM_003482.4(KMT2D):c.10812_10832dup (p.Gln3606_Gln3612dup) rs772217807
NM_003482.4(KMT2D):c.10831C>G (p.Gln3611Glu)
NM_003482.4(KMT2D):c.10843G>A (p.Ala3615Thr)
NM_003482.4(KMT2D):c.10855C>G (p.Leu3619Val)
NM_003482.4(KMT2D):c.10975C>A (p.Pro3659Thr)
NM_003482.4(KMT2D):c.1097C>A (p.Thr366Asn)
NM_003482.4(KMT2D):c.11191G>A (p.Ala3731Thr)
NM_003482.4(KMT2D):c.11216A>G (p.Gln3739Arg)
NM_003482.4(KMT2D):c.11303C>T (p.Ala3768Val)
NM_003482.4(KMT2D):c.11338A>G (p.Ser3780Gly)
NM_003482.4(KMT2D):c.11414C>T (p.Ala3805Val) rs867414725
NM_003482.4(KMT2D):c.11519T>A (p.Leu3840Gln)
NM_003482.4(KMT2D):c.11547_11557dup (p.Val3853fs) rs1555188623
NM_003482.4(KMT2D):c.11566C>G (p.Gln3856Glu)
NM_003482.4(KMT2D):c.11594A>G (p.Gln3865Arg)
NM_003482.4(KMT2D):c.11627T>A (p.Leu3876His)
NM_003482.4(KMT2D):c.11704C>G (p.Gln3902Glu)
NM_003482.4(KMT2D):c.11722C>T (p.Gln3908Ter)
NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter) rs2120437427
NM_003482.4(KMT2D):c.11819_11836dup (p.Leu3940_Gln3945dup) rs1160407199
NM_003482.4(KMT2D):c.11882A>C (p.Gln3961Pro)
NM_003482.4(KMT2D):c.11938C>T (p.Gln3980Ter)
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.4(KMT2D):c.11945G>A (p.Arg3982Gln)
NM_003482.4(KMT2D):c.12097G>A (p.Val4033Ile)
NM_003482.4(KMT2D):c.12174G>A (p.Met4058Ile)
NM_003482.4(KMT2D):c.12190G>A (p.Glu4064Lys)
NM_003482.4(KMT2D):c.12257C>T (p.Pro4086Leu)
NM_003482.4(KMT2D):c.12414dup (p.Val4139fs) rs1942959186
NM_003482.4(KMT2D):c.12466del (p.Gln4156fs)
NM_003482.4(KMT2D):c.1252C>T (p.Pro418Ser)
NM_003482.4(KMT2D):c.12553C>G (p.Leu4185Val)
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12599A>G (p.Gln4200Arg)
NM_003482.4(KMT2D):c.12737C>T (p.Pro4246Leu)
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.12796T>A (p.Phe4266Ile)
NM_003482.4(KMT2D):c.12874C>G (p.Pro4292Ala) rs1555187827
NM_003482.4(KMT2D):c.13005G>T (p.Gln4335His) rs1555187752
NM_003482.4(KMT2D):c.13018C>T (p.His4340Tyr)
NM_003482.4(KMT2D):c.13022C>T (p.Pro4341Leu)
NM_003482.4(KMT2D):c.13133A>G (p.Asp4378Gly)
NM_003482.4(KMT2D):c.13165C>G (p.Pro4389Ala)
NM_003482.4(KMT2D):c.13249C>G (p.Gln4417Glu)
NM_003482.4(KMT2D):c.13280G>C (p.Gly4427Ala)
NM_003482.4(KMT2D):c.13331G>C (p.Gly4444Ala) rs748820389
NM_003482.4(KMT2D):c.13361C>T (p.Pro4454Leu)
NM_003482.4(KMT2D):c.13411_13412del (p.Asn4471fs) rs1555187440
NM_003482.4(KMT2D):c.13421T>G (p.Leu4474Arg)
NM_003482.4(KMT2D):c.13438T>G (p.Ser4480Ala)
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.13607G>A (p.Arg4536Gln)
NM_003482.4(KMT2D):c.13633G>A (p.Val4545Ile)
NM_003482.4(KMT2D):c.13750C>A (p.Pro4584Thr)
NM_003482.4(KMT2D):c.13756A>T (p.Asn4586Tyr)
NM_003482.4(KMT2D):c.13817A>G (p.Tyr4606Cys) rs587778481
NM_003482.4(KMT2D):c.13946G>A (p.Gly4649Glu)
NM_003482.4(KMT2D):c.13986_13993dup (p.Leu4665fs) rs1555186842
NM_003482.4(KMT2D):c.13990G>T (p.Ala4664Ser)
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.140G>A (p.Gly47Glu)
NM_003482.4(KMT2D):c.14371G>A (p.Ala4791Thr)
NM_003482.4(KMT2D):c.1438C>G (p.Pro480Ala)
NM_003482.4(KMT2D):c.14465G>T (p.Ser4822Ile)
NM_003482.4(KMT2D):c.14503G>A (p.Ala4835Thr)
NM_003482.4(KMT2D):c.14516-5T>C
NM_003482.4(KMT2D):c.14516G>T (p.Gly4839Val)
NM_003482.4(KMT2D):c.14530G>A (p.Gly4844Ser)
NM_003482.4(KMT2D):c.14545A>G (p.Ser4849Gly)
NM_003482.4(KMT2D):c.14546G>A (p.Ser4849Asn)
NM_003482.4(KMT2D):c.14695T>A (p.Ser4899Thr)
NM_003482.4(KMT2D):c.14801T>C (p.Val4934Ala)
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15127A>G (p.Thr5043Ala) rs1942619358
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15152A>G (p.Asn5051Ser)
NM_003482.4(KMT2D):c.15250C>A (p.Leu5084Met)
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15596T>G (p.Phe5199Cys)
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) rs1942584412
NM_003482.4(KMT2D):c.15791G>T (p.Trp5264Leu) rs587783697
NM_003482.4(KMT2D):c.15796C>T (p.Arg5266Cys)
NM_003482.4(KMT2D):c.15838A>C (p.Met5280Leu)
NM_003482.4(KMT2D):c.15838A>G (p.Met5280Val)
NM_003482.4(KMT2D):c.15858_15859del (p.Tyr5287fs)
NM_003482.4(KMT2D):c.15928G>A (p.Gly5310Arg)
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.16022C>G (p.Ser5341Ter)
NM_003482.4(KMT2D):c.16057C>T (p.His5353Tyr)
NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys) rs2137706560
NM_003482.4(KMT2D):c.16315C>T (p.Arg5439Trp)
NM_003482.4(KMT2D):c.16321A>G (p.Lys5441Glu)
NM_003482.4(KMT2D):c.16336dup (p.Gln5446fs) rs1555184787
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys) rs1555184684
NM_003482.4(KMT2D):c.16589G>A (p.Trp5530Ter) rs1555184538
NM_003482.4(KMT2D):c.1778C>T (p.Pro593Leu) rs758229212
NM_003482.4(KMT2D):c.1837G>A (p.Glu613Lys)
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.2054A>G (p.Glu685Gly)
NM_003482.4(KMT2D):c.2143C>G (p.Leu715Val)
NM_003482.4(KMT2D):c.2227C>G (p.Leu743Val)
NM_003482.4(KMT2D):c.2264_2317del (p.Arg755_Pro772del)
NM_003482.4(KMT2D):c.2288C>T (p.Pro763Leu)
NM_003482.4(KMT2D):c.2396C>T (p.Pro799Leu)
NM_003482.4(KMT2D):c.2488G>A (p.Glu830Lys)
NM_003482.4(KMT2D):c.2491T>A (p.Ser831Thr)
NM_003482.4(KMT2D):c.2588G>T (p.Arg863Leu) rs747921601
NM_003482.4(KMT2D):c.2606A>G (p.Glu869Gly)
NM_003482.4(KMT2D):c.2614G>C (p.Gly872Arg)
NM_003482.4(KMT2D):c.2639T>C (p.Leu880Pro)
NM_003482.4(KMT2D):c.2695G>T (p.Ala899Ser)
NM_003482.4(KMT2D):c.2790G>A (p.Met930Ile)
NM_003482.4(KMT2D):c.2824A>G (p.Ile942Val)
NM_003482.4(KMT2D):c.2962G>A (p.Ala988Thr)
NM_003482.4(KMT2D):c.2962G>C (p.Ala988Pro)
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.317A>G (p.Asn106Ser)
NM_003482.4(KMT2D):c.3184G>T (p.Val1062Leu)
NM_003482.4(KMT2D):c.318T>A (p.Asn106Lys)
NM_003482.4(KMT2D):c.3241C>A (p.Pro1081Thr)
NM_003482.4(KMT2D):c.3365C>A (p.Thr1122Lys)
NM_003482.4(KMT2D):c.4111G>A (p.Asp1371Asn)
NM_003482.4(KMT2D):c.4177C>T (p.His1393Tyr)
NM_003482.4(KMT2D):c.4240A>G (p.Thr1414Ala)
NM_003482.4(KMT2D):c.4280G>A (p.Cys1427Tyr) rs1555195158
NM_003482.4(KMT2D):c.4418+5G>A rs587783717
NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.4641_4643del (p.Asp1548del)
NM_003482.4(KMT2D):c.4681G>A (p.Val1561Ile)
NM_003482.4(KMT2D):c.4814T>C (p.Met1605Thr) rs2120589159
NM_003482.4(KMT2D):c.4835G>A (p.Arg1612His)
NM_003482.4(KMT2D):c.4849C>T (p.Arg1617Trp)
NM_003482.4(KMT2D):c.4941del (p.Asp1648fs) rs1555194443
NM_003482.4(KMT2D):c.5075A>G (p.Tyr1692Cys)
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.512G>A (p.Arg171His)
NM_003482.4(KMT2D):c.5182G>A (p.Asp1728Asn)
NM_003482.4(KMT2D):c.521A>G (p.His174Arg)
NM_003482.4(KMT2D):c.5265G>T (p.Gln1755His)
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.5339A>G (p.Glu1780Gly)
NM_003482.4(KMT2D):c.5448A>T (p.Glu1816Asp)
NM_003482.4(KMT2D):c.5471A>G (p.Asp1824Gly)
NM_003482.4(KMT2D):c.5491G>C (p.Asp1831His)
NM_003482.4(KMT2D):c.5495A>C (p.Glu1832Ala)
NM_003482.4(KMT2D):c.5504G>A (p.Arg1835His)
NM_003482.4(KMT2D):c.5548G>A (p.Gly1850Ser)
NM_003482.4(KMT2D):c.5775del (p.Leu1926fs) rs1943599403
NM_003482.4(KMT2D):c.5780A>G (p.Gln1927Arg)
NM_003482.4(KMT2D):c.5939C>G (p.Thr1980Arg) rs1164333482
NM_003482.4(KMT2D):c.605G>T (p.Gly202Val)
NM_003482.4(KMT2D):c.610T>C (p.Phe204Leu)
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6314G>T (p.Arg2105Leu)
NM_003482.4(KMT2D):c.6370A>G (p.Ile2124Val)
NM_003482.4(KMT2D):c.6442G>A (p.Gly2148Ser) rs1327384852
NM_003482.4(KMT2D):c.6466C>G (p.Pro2156Ala)
NM_003482.4(KMT2D):c.6482T>A (p.Leu2161His)
NM_003482.4(KMT2D):c.6544G>T (p.Ala2182Ser)
NM_003482.4(KMT2D):c.6572C>A (p.Thr2191Lys)
NM_003482.4(KMT2D):c.6590C>T (p.Pro2197Leu)
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser) rs1943505364
NM_003482.4(KMT2D):c.6698C>T (p.Thr2233Ile)
NM_003482.4(KMT2D):c.6739C>G (p.Pro2247Ala)
NM_003482.4(KMT2D):c.6742C>T (p.Arg2248Cys) rs371402071
NM_003482.4(KMT2D):c.6743G>A (p.Arg2248His)
NM_003482.4(KMT2D):c.6779G>A (p.Ser2260Asn) rs746355138
NM_003482.4(KMT2D):c.6854T>C (p.Leu2285Pro)
NM_003482.4(KMT2D):c.7044G>T (p.Arg2348Ser)
NM_003482.4(KMT2D):c.7090A>G (p.Ser2364Gly)
NM_003482.4(KMT2D):c.70G>T (p.Glu24Ter) rs1555198910
NM_003482.4(KMT2D):c.7156C>T (p.Arg2386Trp)
NM_003482.4(KMT2D):c.7174C>T (p.Pro2392Ser)
NM_003482.4(KMT2D):c.7210C>T (p.Pro2404Ser)
NM_003482.4(KMT2D):c.7511G>A (p.Gly2504Asp)
NM_003482.4(KMT2D):c.7649C>A (p.Pro2550His) rs368698254
NM_003482.4(KMT2D):c.7655C>T (p.Pro2552Leu)
NM_003482.4(KMT2D):c.769G>A (p.Asp257Asn)
NM_003482.4(KMT2D):c.7726C>G (p.Gln2576Glu)
NM_003482.4(KMT2D):c.778del (p.Ala259_Leu260insTer) rs1938214848
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
NM_003482.4(KMT2D):c.794G>A (p.Arg265His)
NM_003482.4(KMT2D):c.7964C>G (p.Ser2655Cys)
NM_003482.4(KMT2D):c.7994A>G (p.Gln2665Arg)
NM_003482.4(KMT2D):c.79A>G (p.Ser27Gly) rs1938323081
NM_003482.4(KMT2D):c.8042G>A (p.Arg2681Gln)
NM_003482.4(KMT2D):c.8201G>A (p.Arg2734Gln)
NM_003482.4(KMT2D):c.8310C>A (p.Asp2770Glu)
NM_003482.4(KMT2D):c.8370A>C (p.Gln2790His)
NM_003482.4(KMT2D):c.8371C>A (p.Leu2791Met)
NM_003482.4(KMT2D):c.8489G>A (p.Arg2830Gln) rs1271513534
NM_003482.4(KMT2D):c.8498T>C (p.Met2833Thr)
NM_003482.4(KMT2D):c.8510T>C (p.Phe2837Ser)
NM_003482.4(KMT2D):c.8720A>G (p.Tyr2907Cys)
NM_003482.4(KMT2D):c.8842C>T (p.Pro2948Ser)
NM_003482.4(KMT2D):c.8843C>T (p.Pro2948Leu)
NM_003482.4(KMT2D):c.8933C>T (p.Pro2978Leu)
NM_003482.4(KMT2D):c.9260G>A (p.Arg3087Gln) rs1233005055
NM_003482.4(KMT2D):c.9284G>T (p.Gly3095Val)
NM_003482.4(KMT2D):c.9352G>A (p.Val3118Met)
NM_003482.4(KMT2D):c.9443A>G (p.Asn3148Ser)
NM_003482.4(KMT2D):c.9497C>T (p.Thr3166Ile)
NM_003482.4(KMT2D):c.9533A>C (p.His3178Pro)
NM_003482.4(KMT2D):c.9554T>C (p.Phe3185Ser) rs377231704
NM_003482.4(KMT2D):c.9674G>T (p.Gly3225Val)
NM_003482.4(KMT2D):c.9787_9791dup (p.Gln3265fs) rs1943282614
NM_003482.4(KMT2D):c.9815C>T (p.Pro3272Leu)
NM_003482.4(KMT2D):c.988T>C (p.Ser330Pro)
NM_003482.4(KMT2D):c.989C>T (p.Ser330Leu)
NM_003482.4(KMT2D):c.9902G>T (p.Gly3301Val)
NM_003482.4(KMT2D):c.9950T>G (p.Leu3317Arg)
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) rs1291730464

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