ClinVar Miner

Variants in gene KMT2D with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 99
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
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.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
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.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
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.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.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 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.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
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.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
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.5874C>T (p.Arg1958=) rs182887940 0.00091
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.6621G>A (p.Ala2207=) rs199896881 0.00077
NM_003482.4(KMT2D):c.1259-13G>A rs373466438 0.00074
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_003482.4(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963 0.00062
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 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.6354C>T (p.Pro2118=) rs377392943 0.00053
NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=) rs189571290 0.00052
NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro) rs200429063 0.00051
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
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.11670C>T (p.Ser3890=) rs376471354 0.00029
NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050 0.00028
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) rs141231056 0.00026
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566 0.00026
NM_003482.4(KMT2D):c.4089C>T (p.Thr1363=) rs369601017 0.00026
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) rs373414243 0.00025
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) rs376753331 0.00019
NM_003482.4(KMT2D):c.626C>T (p.Thr209Ile) rs373972024 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) rs137955659 0.00015
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_003482.4(KMT2D):c.8973C>T (p.Pro2991=) rs375466241 0.00011
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser) rs552543556 0.00010
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) rs138227815 0.00010
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003482.4(KMT2D):c.8011G>A (p.Gly2671Ser) rs762567167 0.00005
NM_003482.4(KMT2D):c.1296C>T (p.Ala432=) rs547058856 0.00004
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.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.9720G>C (p.Leu3240=) rs370192252 0.00001
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile) rs1304208223
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=) rs575965702
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala) rs372919446
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.5967G>A (p.Thr1989=) rs199555915
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) rs369429157
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761

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