ClinVar Miner

Variants in gene KMT2A with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
3099 291 0 81 51 0 3 131

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 14 2 0 0
likely pathogenic 14 0 1 0 0
uncertain significance 2 1 0 48 7
likely benign 0 0 48 0 67
benign 0 0 7 67 0

All variants with conflicting interpretations #

Total variants: 131
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_001197104.2(KMT2A):c.10209G>A (p.Pro3403=) rs9332843 0.00769
NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=) rs9332840 0.00738
NM_001197104.2(KMT2A):c.4218+20A>G rs9332798 0.00638
NM_001197104.2(KMT2A):c.158C>T (p.Ala53Val) rs9332747 0.00631
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_001197104.2(KMT2A):c.3291A>G (p.Pro1097=) rs9332783 0.00439
NM_001197104.2(KMT2A):c.10318A>G (p.Ile3440Val) rs117099452 0.00190
NM_001197104.2(KMT2A):c.6699C>T (p.Thr2233=) rs36026884 0.00187
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) rs142875797 0.00171
NM_001197104.2(KMT2A):c.4254A>T (p.Gly1418=) rs147072909 0.00167
NM_001197104.2(KMT2A):c.5631G>A (p.Ala1877=) rs147764171 0.00118
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00117
NM_001197104.2(KMT2A):c.10547G>A (p.Gly3516Glu) rs149137886 0.00110
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe) rs139989306 0.00101
NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn) rs149404438 0.00096
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=) rs141961986 0.00093
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001197104.2(KMT2A):c.6009C>T (p.Asp2003=) rs77421119 0.00086
NM_001197104.2(KMT2A):c.10475C>T (p.Ala3492Val) rs145249825 0.00076
NM_001197104.2(KMT2A):c.7304C>G (p.Ser2435Cys) rs76721917 0.00069
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro) rs142985138 0.00059
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser) rs147014136 0.00051
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00050
NM_001197104.2(KMT2A):c.3684C>T (p.Ser1228=) rs369529777 0.00044
NM_001197104.2(KMT2A):c.4479+17T>C rs202184506 0.00040
NM_001197104.2(KMT2A):c.10690C>T (p.Arg3564Trp) rs555310772 0.00036
NM_001197104.2(KMT2A):c.5733G>A (p.Ala1911=) rs151337923 0.00036
NM_001197104.2(KMT2A):c.7983G>C (p.Lys2661Asn) rs142807735 0.00036
NM_001197104.2(KMT2A):c.8307T>C (p.His2769=) rs148437955 0.00031
NM_001197104.2(KMT2A):c.2943A>G (p.Pro981=) rs146028064 0.00029
NM_001197104.2(KMT2A):c.8650T>C (p.Leu2884=) rs9332841 0.00029
NM_001197104.2(KMT2A):c.6185C>T (p.Thr2062Ile) rs145061625 0.00028
NM_001197104.2(KMT2A):c.6957A>G (p.Ser2319=) rs149014176 0.00027
NM_001197104.2(KMT2A):c.3634+4G>A rs367948360 0.00024
NM_001197104.2(KMT2A):c.1716G>T (p.Leu572=) rs566939193 0.00023
NM_001197104.2(KMT2A):c.8214G>A (p.Arg2738=) rs138868861 0.00023
NM_001197104.2(KMT2A):c.10092C>T (p.His3364=) rs782320299 0.00019
NM_001197104.2(KMT2A):c.4369A>G (p.Lys1457Glu) rs201765973 0.00019
NM_001197104.2(KMT2A):c.8632C>T (p.Leu2878=) rs150502030 0.00019
NM_001197104.2(KMT2A):c.8965G>A (p.Glu2989Lys) rs143843795 0.00019
NM_001197104.2(KMT2A):c.10746A>T (p.Ser3582=) rs9332844 0.00016
NM_001197104.2(KMT2A):c.9165T>C (p.Asp3055=) rs143721596 0.00015
NM_001197104.2(KMT2A):c.6693C>T (p.Ser2231=) rs569463074 0.00014
NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr) rs142658261 0.00011
NM_001197104.2(KMT2A):c.6685T>A (p.Ser2229Thr) rs367939528 0.00011
NM_001197104.2(KMT2A):c.260C>T (p.Ser87Leu) rs868991793 0.00009
NM_001197104.2(KMT2A):c.5289+5A>G rs568439743 0.00009
NM_001197104.2(KMT2A):c.6492G>A (p.Pro2164=) rs145452548 0.00009
NM_001197104.2(KMT2A):c.9400C>T (p.Leu3134Phe) rs138969270 0.00009
NM_001197104.2(KMT2A):c.685C>A (p.Pro229Thr) rs143998546 0.00006
NM_001197104.2(KMT2A):c.7255G>A (p.Glu2419Lys) rs782181274 0.00006
NM_001197104.2(KMT2A):c.2684A>G (p.Lys895Arg) rs200600434 0.00005
NM_001197104.2(KMT2A):c.4889G>A (p.Arg1630Gln) rs143317202 0.00005
NM_001197104.2(KMT2A):c.6700G>A (p.Gly2234Arg) rs782272214 0.00005
NM_001197104.2(KMT2A):c.9514A>G (p.Thr3172Ala) rs782359762 0.00005
NM_001197104.2(KMT2A):c.9737T>C (p.Ile3246Thr) rs1259638674 0.00005
NM_001197104.2(KMT2A):c.10835+1G>C rs141515578 0.00004
NM_001197104.2(KMT2A):c.227G>C (p.Gly76Ala) rs533795027 0.00004
NM_001197104.2(KMT2A):c.3796C>T (p.Pro1266Ser) rs370374383 0.00004
NM_001197104.2(KMT2A):c.3799G>A (p.Val1267Ile) rs376303494 0.00004
NM_001197104.2(KMT2A):c.7004C>T (p.Ala2335Val) rs188435877 0.00004
NM_001197104.2(KMT2A):c.7023A>C (p.Thr2341=) rs554266191 0.00004
NM_001197104.2(KMT2A):c.9904G>A (p.Ala3302Thr) rs551471898 0.00004
NM_001197104.2(KMT2A):c.10417C>T (p.Arg3473Cys) rs781919840 0.00003
NM_001197104.2(KMT2A):c.218G>A (p.Gly73Glu) rs782233787 0.00003
NM_001197104.2(KMT2A):c.4696+5C>G rs374209348 0.00003
NM_001197104.2(KMT2A):c.5589G>T (p.Glu1863Asp) rs565762131 0.00003
NM_001197104.2(KMT2A):c.6590G>A (p.Arg2197His) rs370899148 0.00003
NM_001197104.2(KMT2A):c.7561C>T (p.Arg2521Cys) rs540886080 0.00003
NM_001197104.2(KMT2A):c.10181G>A (p.Gly3394Glu) rs782460936 0.00002
NM_001197104.2(KMT2A):c.10418G>A (p.Arg3473His) rs782670360 0.00002
NM_001197104.2(KMT2A):c.10863G>C (p.Gln3621His) rs781816624 0.00002
NM_001197104.2(KMT2A):c.2004T>G (p.Ser668=) rs147102502 0.00002
NM_001197104.2(KMT2A):c.2030G>A (p.Arg677Gln) rs781995666 0.00002
NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe) rs374005016 0.00002
NM_001197104.2(KMT2A):c.3907C>G (p.Leu1303Val) rs782491835 0.00002
NM_001197104.2(KMT2A):c.412G>A (p.Gly138Arg) rs782080138 0.00002
NM_001197104.2(KMT2A):c.4696+6C>A rs534620846 0.00002
NM_001197104.2(KMT2A):c.5665-10T>C rs1401608038 0.00002
NM_001197104.2(KMT2A):c.6793A>C (p.Thr2265Pro) rs782707495 0.00002
NM_001197104.2(KMT2A):c.727G>A (p.Glu243Lys) rs531494566 0.00002
NM_001197104.2(KMT2A):c.8096G>A (p.Arg2699Gln) rs956313303 0.00002
NM_001197104.2(KMT2A):c.8108A>G (p.His2703Arg) rs1555047011 0.00002
NM_001197104.2(KMT2A):c.10288T>G (p.Cys3430Gly) rs373345566 0.00001
NM_001197104.2(KMT2A):c.135G>A (p.Pro45=) rs9332746 0.00001
NM_001197104.2(KMT2A):c.1529A>G (p.His510Arg) rs782129160 0.00001
NM_001197104.2(KMT2A):c.1807C>T (p.Pro603Ser) rs782548809 0.00001
NM_001197104.2(KMT2A):c.3941C>T (p.Pro1314Leu) rs150277124 0.00001
NM_001197104.2(KMT2A):c.4100C>T (p.Pro1367Leu) rs550235275 0.00001
NM_001197104.2(KMT2A):c.539G>C (p.Arg180Thr) rs1315427088 0.00001
NM_001197104.2(KMT2A):c.5525C>T (p.Thr1842Ile) rs144180211 0.00001
NM_001197104.2(KMT2A):c.6320-3C>T rs1434508254 0.00001
NM_001197104.2(KMT2A):c.6446G>A (p.Arg2149Gln) rs782124549 0.00001
NM_001197104.2(KMT2A):c.6844C>T (p.His2282Tyr) rs1950519775 0.00001
NM_001197104.2(KMT2A):c.7475A>G (p.Asp2492Gly) rs782556163 0.00001
NM_001197104.2(KMT2A):c.7514C>A (p.Pro2505His) rs782617745 0.00001
NM_001197104.2(KMT2A):c.8976G>A (p.Met2992Ile) rs781817780 0.00001
NM_001197104.2(KMT2A):c.9176C>T (p.Pro3059Leu) rs782800112 0.00001
NM_001197104.2(KMT2A):c.9409G>A (p.Gly3137Arg) rs782373344 0.00001
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln) rs147844226
NM_001197104.2(KMT2A):c.1519C>G (p.Pro507Ala) rs191014566
NM_001197104.2(KMT2A):c.1589G>T (p.Arg530Met) rs1555036085
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter) rs1949967549
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del) rs781936420
NM_001197104.2(KMT2A):c.188CGG[6] (p.Ala67dup) rs781936420
NM_001197104.2(KMT2A):c.2062T>A (p.Phe688Ile) rs369566552
NM_001197104.2(KMT2A):c.2719C>T (p.Pro907Ser) rs1064797056
NM_001197104.2(KMT2A):c.273TTCGTC[3] (p.Ser98_Ala99insSerSer) rs781793601
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.370A>G (p.Thr124Ala) rs1555138791
NM_001197104.2(KMT2A):c.3770G>T (p.Ser1257Ile) rs988213215
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.5005-2A>G rs1555042987
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001197104.2(KMT2A):c.5961+37del rs57102960
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001197104.2(KMT2A):c.6470A>G (p.Gln2157Arg) rs2134381992
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001197104.2(KMT2A):c.7070C>G (p.Pro2357Arg) rs9332838
NM_001197104.2(KMT2A):c.7516A>T (p.Met2506Leu) rs370745462
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001197104.2(KMT2A):c.9910_9911del (p.Leu3304fs) rs886041834

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