ClinVar Miner

List of variants in gene KMT2D reported as not provided by ITMI

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Gene type:
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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210 0.09584
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229 0.04312
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195 0.01486
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626 0.00649
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
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.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.10045A>G (p.Met3349Val) rs80149580 0.00083
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471 0.00034
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566 0.00026
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_003482.4(KMT2D):c.6901C>T (p.Pro2301Ser) rs200681496 0.00017
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003482.4(KMT2D):c.5129C>T (p.Thr1710Met) rs587778457 0.00014
NM_003482.4(KMT2D):c.5546G>A (p.Gly1849Glu) rs587778459 0.00013
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827 0.00011
NM_003482.4(KMT2D):c.13220T>C (p.Val4407Ala) rs185126345 0.00010
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453 0.00009
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg) rs372520829 0.00009
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.553C>T (p.Arg185Cys) rs201796530 0.00007
NM_003482.4(KMT2D):c.6319C>A (p.Pro2107Thr) rs201977719 0.00007
NM_003482.4(KMT2D):c.10024C>T (p.Arg3342Cys) rs371869550 0.00006
NM_003482.4(KMT2D):c.13796C>T (p.Ala4599Val) rs577303074 0.00006
NM_003482.4(KMT2D):c.5386C>T (p.Arg1796Trp) rs186948725 0.00006
NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475 0.00004
NM_003482.4(KMT2D):c.1672C>T (p.Pro558Ser) rs587778451 0.00004
NM_003482.4(KMT2D):c.7490C>T (p.Ala2497Val) rs376603595 0.00004
NM_003482.4(KMT2D):c.11875C>A (p.Gln3959Lys) rs587778473 0.00003
NM_003482.4(KMT2D):c.5504G>T (p.Arg1835Leu) rs368134008 0.00003
NM_003482.4(KMT2D):c.8695G>A (p.Gly2899Ser) rs587778472 0.00003
NM_003482.4(KMT2D):c.11120G>A (p.Arg3707Gln) rs587778477 0.00002
NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512 0.00002
NM_003482.4(KMT2D):c.7229G>A (p.Arg2410Gln) rs587778466 0.00002
NM_003482.4(KMT2D):c.10987G>A (p.Ala3663Thr) rs587778476 0.00001
NM_003482.4(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673 0.00001
NM_003482.4(KMT2D):c.12980G>A (p.Ser4327Asn) rs587778479 0.00001
NM_003482.4(KMT2D):c.13582G>A (p.Ala4528Thr) rs587778480 0.00001
NM_003482.4(KMT2D):c.14749C>T (p.Pro4917Ser) rs587778485 0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458 0.00001
NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His) rs374216845 0.00001
NM_003482.4(KMT2D):c.6317T>C (p.Ile2106Thr) rs587778467 0.00001
NM_003482.4(KMT2D):c.6505G>A (p.Ala2169Thr) rs369501280 0.00001
NM_003482.4(KMT2D):c.9418A>G (p.Lys3140Glu) rs587778470 0.00001
NM_003482.4(KMT2D):c.1057C>A (p.Gln353Lys) rs587778487
NM_003482.4(KMT2D):c.12139G>A (p.Gly4047Arg) rs587778478
NM_003482.4(KMT2D):c.12800C>T (p.Pro4267Leu) rs587778474
NM_003482.4(KMT2D):c.13081G>A (p.Ala4361Thr) rs201938646
NM_003482.4(KMT2D):c.13817A>G (p.Tyr4606Cys) rs587778481
NM_003482.4(KMT2D):c.13969T>C (p.Ser4657Pro) rs587778482
NM_003482.4(KMT2D):c.15011A>T (p.Glu5004Val) rs587778484
NM_003482.4(KMT2D):c.15317G>A (p.Arg5106His) rs587778486
NM_003482.4(KMT2D):c.1579C>T (p.Pro527Ser) rs587778450
NM_003482.4(KMT2D):c.1677_1703del (p.Glu560_Glu568del) rs587778448
NM_003482.4(KMT2D):c.191G>A (p.Arg64Gln) rs587778462
NM_003482.4(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2656C>A (p.Pro886Thr) rs199946966
NM_003482.4(KMT2D):c.2656C>G (p.Pro886Ala) rs199946966
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.4(KMT2D):c.3180_3181delinsTT (p.Lys1060_Val1061delinsAsnLeu) rs587778454
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.4030A>G (p.Ile1344Val) rs574134747
NM_003482.4(KMT2D):c.5732C>A (p.Thr1911Asn) rs587778460
NM_003482.4(KMT2D):c.5753G>A (p.Arg1918His) rs587778461
NM_003482.4(KMT2D):c.6445T>C (p.Ser2149Pro) rs587778468
NM_003482.4(KMT2D):c.6740C>G (p.Pro2247Arg) rs587778464
NM_003482.4(KMT2D):c.6812C>T (p.Pro2271Leu) rs587778465
NM_003482.4(KMT2D):c.6832T>G (p.Phe2278Val) rs587778469
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761

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