ClinVar Miner

Variants in gene MLH3 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
2261 132 0 32 45 0 4 74

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 0 2 0 0
likely pathogenic 0 0 2 0 0
uncertain significance 2 2 0 37 13
likely benign 0 0 37 0 32
benign 0 0 13 32 0

All variants with conflicting interpretations #

Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_001040108.2(MLH3):c.444G>C (p.Val148=) rs11556091 0.01944
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly) rs28756992 0.01483
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) rs17102999 0.00989
NM_001040108.2(MLH3):c.3570+28A>T rs67547819 0.00949
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_001040108.2(MLH3):c.408T>C (p.Asp136=) rs61755655 0.00552
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn) rs28756993 0.00551
NM_001040108.2(MLH3):c.3987+15C>T rs117251698 0.00496
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008 0.00323
NM_001040108.2(MLH3):c.3987+7C>A rs28757028 0.00219
NM_001040108.2(MLH3):c.3644-13C>T rs189760727 0.00199
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val) rs61752722 0.00197
NM_001040108.2(MLH3):c.2490T>G (p.Phe830Leu) rs114015611 0.00177
NM_001040108.2(MLH3):c.735C>T (p.Tyr245=) rs111782152 0.00172
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys) rs28756987 0.00171
NM_001040108.2(MLH3):c.1799G>A (p.Arg600Gln) rs28756984 0.00168
NM_001040108.2(MLH3):c.2167G>A (p.Val723Ile) rs28756989 0.00168
NM_001040108.2(MLH3):c.2924A>G (p.Asn975Ser) rs141066164 0.00160
NM_001040108.2(MLH3):c.429G>A (p.Gly143=) rs138943686 0.00160
NM_001040108.2(MLH3):c.3746C>T (p.Ser1249Phe) rs139265757 0.00108
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_001040108.2(MLH3):c.394G>A (p.Ala132Thr) rs148095325 0.00102
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011 0.00100
NM_001040108.2(MLH3):c.423C>T (p.Ser141=) rs142179277 0.00100
NM_001040108.2(MLH3):c.2670G>A (p.Met890Ile) rs147021156 0.00093
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=) rs181990057 0.00073
NM_001040108.2(MLH3):c.1234A>G (p.Lys412Glu) rs61754769 0.00061
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile) rs41555714 0.00048
NM_001040108.2(MLH3):c.902A>T (p.Glu301Val) rs77687901 0.00040
NM_001040108.2(MLH3):c.837C>T (p.Cys279=) rs149962294 0.00039
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529 0.00035
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile) rs55725216 0.00034
NM_001040108.2(MLH3):c.1168T>A (p.Phe390Ile) rs61752721 0.00030
NM_001040108.2(MLH3):c.2180G>A (p.Ser727Asn) rs116526686 0.00029
NM_001040108.2(MLH3):c.3280+14A>T rs142042839 0.00019
NM_001040108.2(MLH3):c.3563C>G (p.Ser1188Ter) rs193219754 0.00019
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln) rs201303087 0.00018
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser) rs144707485 0.00016
NM_001040108.2(MLH3):c.2356G>A (p.Val786Ile) rs372089146 0.00009
NM_001040108.2(MLH3):c.2435G>C (p.Ser812Thr) rs763408801 0.00009
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=) rs376981545 0.00007
NM_001040108.2(MLH3):c.1651C>T (p.Pro551Ser) rs902755970 0.00006
NM_001040108.2(MLH3):c.2224C>T (p.Arg742Cys) rs774817891 0.00006
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly) rs28756978 0.00006
NM_001040108.2(MLH3):c.3312C>T (p.Ser1104=) rs149369905 0.00006
NM_001040108.2(MLH3):c.1724A>G (p.His575Arg) rs141572255 0.00004
NM_001040108.2(MLH3):c.2373G>A (p.Leu791=) rs764724825 0.00004
NM_001040108.2(MLH3):c.3723C>T (p.Tyr1241=) rs145627040 0.00004
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=) rs565238806 0.00004
NM_001040108.2(MLH3):c.2941G>A (p.Gly981Ser) rs377337763 0.00003
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=) rs746155226 0.00003
NM_001040108.2(MLH3):c.1142G>A (p.Arg381His) rs751375245 0.00002
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser) rs776639203 0.00002
NM_001040108.2(MLH3):c.4289G>A (p.Arg1430His) rs760305520 0.00002
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=) rs781394261 0.00001
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=) rs370951929 0.00001
NM_001040108.2(MLH3):c.3784C>T (p.Pro1262Ser) rs372912259 0.00001
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg) rs121908439 0.00001
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile) rs28756990
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs) rs745657036
NM_001040108.2(MLH3):c.3570+29AT[10] rs145063005
NM_001040108.2(MLH3):c.3786G>T (p.Pro1262=) rs28757027
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=) rs975447813
NM_001040108.2(MLH3):c.885del (p.His296fs) rs1431264077
NM_001040108.2(MLH3):c.911G>T (p.Gly304Val) rs540533901

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.