ClinVar Miner

Variants in gene KMT2B 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:
ClinVar version:

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
1516 124 0 69 53 0 3 122

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 4 1 0 0
likely pathogenic 4 0 2 0 0
uncertain significance 1 2 0 44 12
likely benign 0 0 44 0 65
benign 0 0 12 65 0

All variants with conflicting interpretations #

Total variants: 122
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014727.3(KMT2B):c.3000T>C (p.Cys1000=) rs231595 0.01151
NM_014727.3(KMT2B):c.3335-6del rs11348412 0.01147
NM_014727.3(KMT2B):c.1471G>A (p.Gly491Ser) rs185072239 0.00555
NM_014727.3(KMT2B):c.364-16C>T rs138399600 0.00468
NM_014727.3(KMT2B):c.1096G>A (p.Glu366Lys) rs186777199 0.00442
NM_014727.3(KMT2B):c.5077-11C>T rs114427608 0.00409
NM_014727.3(KMT2B):c.5187C>T (p.Asn1729=) rs34980546 0.00406
NM_014727.3(KMT2B):c.2261C>T (p.Pro754Leu) rs179686 0.00344
NM_014727.3(KMT2B):c.3002+12G>A rs231594 0.00337
NM_014727.3(KMT2B):c.6321G>A (p.Glu2107=) rs200327646 0.00294
NM_014727.3(KMT2B):c.1575G>A (p.Arg525=) rs116170996 0.00269
NM_014727.3(KMT2B):c.4303-13C>T rs73590580 0.00238
NM_014727.3(KMT2B):c.2835G>C (p.Leu945=) rs182457846 0.00172
NM_014727.3(KMT2B):c.885C>T (p.Arg295=) rs200352707 0.00168
NM_014727.3(KMT2B):c.3276G>A (p.Ser1092=) rs199942615 0.00160
NM_014727.3(KMT2B):c.1398C>T (p.Ser466=) rs138918689 0.00146
NM_014727.3(KMT2B):c.1169T>C (p.Met390Thr) rs191195577 0.00144
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup) rs564202766 0.00140
NM_014727.3(KMT2B):c.515C>T (p.Thr172Ile) rs60207923 0.00139
NM_014727.3(KMT2B):c.7185G>A (p.Glu2395=) rs138094783 0.00122
NM_014727.3(KMT2B):c.759A>G (p.Pro253=) rs183287776 0.00119
NM_014727.3(KMT2B):c.3867G>A (p.Thr1289=) rs146372727 0.00084
NM_014727.3(KMT2B):c.1760C>G (p.Pro587Arg) rs2242519 0.00080
NM_014727.3(KMT2B):c.4365C>T (p.Arg1455=) rs200272820 0.00063
NM_014727.3(KMT2B):c.454C>T (p.Arg152Trp) rs200918556 0.00058
NM_014727.3(KMT2B):c.6051C>T (p.His2017=) rs374561411 0.00056
NM_014727.3(KMT2B):c.3711G>A (p.Leu1237=) rs111726564 0.00053
NM_014727.3(KMT2B):c.4688-15A>C rs79812110 0.00053
NM_014727.3(KMT2B):c.221G>A (p.Arg74His) rs769345523 0.00051
NM_014727.3(KMT2B):c.4219G>A (p.Gly1407Arg) rs186268702 0.00048
NM_014727.3(KMT2B):c.1212G>A (p.Pro404=) rs574300657 0.00046
NM_014727.3(KMT2B):c.3317G>A (p.Arg1106Gln) rs201094135 0.00041
NM_014727.3(KMT2B):c.4599C>T (p.Pro1533=) rs201593055 0.00040
NM_014727.3(KMT2B):c.5501G>A (p.Arg1834His) rs200461439 0.00038
NM_014727.3(KMT2B):c.2489C>A (p.Ala830Asp) rs201691099 0.00037
NM_014727.3(KMT2B):c.5723C>G (p.Ala1908Gly) rs373355746 0.00034
NM_014727.3(KMT2B):c.1375C>T (p.Pro459Ser) rs574808075 0.00018
NM_014727.3(KMT2B):c.5728C>G (p.Pro1910Ala) rs377408813 0.00015
NM_014727.3(KMT2B):c.5981C>T (p.Ala1994Val) rs546000224 0.00014
NM_014727.3(KMT2B):c.4944C>T (p.Gly1648=) rs372900103 0.00012
NM_014727.3(KMT2B):c.2457G>A (p.Pro819=) rs763878702 0.00011
NM_014727.3(KMT2B):c.4923C>T (p.Cys1641=) rs192205094 0.00009
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr) rs763536557 0.00009
NM_014727.3(KMT2B):c.886G>A (p.Gly296Ser) rs201417711 0.00009
NM_014727.3(KMT2B):c.4825G>A (p.Val1609Ile) rs368307141 0.00006
NM_014727.3(KMT2B):c.620G>A (p.Arg207Gln) rs369788045 0.00006
NM_014727.3(KMT2B):c.6460G>A (p.Ala2154Thr) rs377080591 0.00006
NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn) rs374963939 0.00005
NM_014727.3(KMT2B):c.5504A>T (p.His1835Leu) rs199510721 0.00004
NM_014727.3(KMT2B):c.1444C>T (p.Arg482Trp) rs1420662989 0.00003
NM_014727.3(KMT2B):c.5425G>A (p.Ala1809Thr) rs377420237 0.00002
NM_014727.3(KMT2B):c.5711C>T (p.Pro1904Leu) rs777489488 0.00002
NM_014727.3(KMT2B):c.127G>C (p.Val43Leu) rs866302515 0.00001
NM_014727.3(KMT2B):c.2323G>C (p.Ala775Pro) rs1969217856 0.00001
NM_014727.3(KMT2B):c.2462G>T (p.Ser821Ile) rs767324610 0.00001
NM_014727.3(KMT2B):c.3050C>T (p.Ala1017Val) rs1969301334 0.00001
NM_014727.3(KMT2B):c.3062G>A (p.Arg1021Gln) rs376006013 0.00001
NM_014727.3(KMT2B):c.3604A>G (p.Met1202Val) rs755470297 0.00001
NM_014727.3(KMT2B):c.3813C>T (p.Cys1271=) rs371853461 0.00001
NM_014727.3(KMT2B):c.4199G>A (p.Arg1400His) rs371324331 0.00001
NM_014727.3(KMT2B):c.4845G>A (p.Ser1615=) rs760914884 0.00001
NM_014727.3(KMT2B):c.5429C>T (p.Pro1810Leu) rs1378884779 0.00001
NM_014727.3(KMT2B):c.542G>A (p.Arg181Gln) rs368286257 0.00001
NM_014727.3(KMT2B):c.5908C>A (p.Pro1970Thr) rs991657581 0.00001
NM_014727.3(KMT2B):c.1211C>T (p.Pro404Leu)
NM_014727.3(KMT2B):c.1269TCC[1] (p.Pro427del)
NM_014727.3(KMT2B):c.1299A>C (p.Pro433=)
NM_014727.3(KMT2B):c.1303C>G (p.Pro435Ala)
NM_014727.3(KMT2B):c.1503C>T (p.Thr501=)
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.3(KMT2B):c.1650C>G (p.Asp550Glu)
NM_014727.3(KMT2B):c.1671G>A (p.Val557=)
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.3(KMT2B):c.1693C>T (p.Pro565Ser)
NM_014727.3(KMT2B):c.1769C>T (p.Pro590Leu)
NM_014727.3(KMT2B):c.1790C>T (p.Pro597Leu)
NM_014727.3(KMT2B):c.1918T>A (p.Ser640Thr)
NM_014727.3(KMT2B):c.2005C>T (p.Pro669Ser)
NM_014727.3(KMT2B):c.205C>T (p.Arg69Cys)
NM_014727.3(KMT2B):c.2081G>A (p.Arg694Gln)
NM_014727.3(KMT2B):c.2337C>T (p.Gly779=)
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.3(KMT2B):c.2797G>A (p.Gly933Arg)
NM_014727.3(KMT2B):c.3171G>A (p.Glu1057=)
NM_014727.3(KMT2B):c.3529-3dup rs539483328
NM_014727.3(KMT2B):c.3747C>T (p.Cys1249=)
NM_014727.3(KMT2B):c.4025C>T (p.Thr1342Ile)
NM_014727.3(KMT2B):c.4028G>A (p.Arg1343His)
NM_014727.3(KMT2B):c.4128C>T (p.Tyr1376=)
NM_014727.3(KMT2B):c.4176G>A (p.Pro1392=)
NM_014727.3(KMT2B):c.4198C>T (p.Arg1400Cys)
NM_014727.3(KMT2B):c.4368C>T (p.Phe1456=) rs201875104
NM_014727.3(KMT2B):c.4379A>G (p.His1460Arg)
NM_014727.3(KMT2B):c.4527C>T (p.Asp1509=)
NM_014727.3(KMT2B):c.4534G>A (p.Asp1512Asn)
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014727.3(KMT2B):c.4671A>G (p.Pro1557=)
NM_014727.3(KMT2B):c.475A>T (p.Thr159Ser)
NM_014727.3(KMT2B):c.4761C>T (p.Tyr1587=)
NM_014727.3(KMT2B):c.4869C>T (p.Asp1623=)
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) rs1555731980
NM_014727.3(KMT2B):c.5744G>A (p.Arg1915His) rs746724776
NM_014727.3(KMT2B):c.6027C>T (p.Ala2009=)
NM_014727.3(KMT2B):c.6056G>C (p.Gly2019Ala)
NM_014727.3(KMT2B):c.6198C>T (p.Asp2066=)
NM_014727.3(KMT2B):c.6236G>A (p.Arg2079Gln)
NM_014727.3(KMT2B):c.6249G>A (p.Thr2083=) rs375564425
NM_014727.3(KMT2B):c.6249G>T (p.Thr2083=) rs375564425
NM_014727.3(KMT2B):c.6332C>T (p.Ser2111Leu)
NM_014727.3(KMT2B):c.6413C>T (p.Pro2138Leu) rs772818778
NM_014727.3(KMT2B):c.647C>G (p.Pro216Arg) rs200386275
NM_014727.3(KMT2B):c.6518G>A (p.Arg2173Gln)
NM_014727.3(KMT2B):c.6782C>A (p.Thr2261Lys)
NM_014727.3(KMT2B):c.6883T>A (p.Tyr2295Asn)
NM_014727.3(KMT2B):c.6968G>A (p.Arg2323His)
NM_014727.3(KMT2B):c.7260T>C (p.Ser2420=) rs760291756
NM_014727.3(KMT2B):c.7297+7G>T rs201555369
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=) rs368560676
NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp) rs1057519285
NM_014727.3(KMT2B):c.8016T>C (p.Ile2672=)
NM_014727.3(KMT2B):c.8064C>T (p.Tyr2688=)
NM_014727.3(KMT2B):c.976GGTCAA[2] (p.326GQ[2]) rs756646242

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