ClinVar Miner

Variants in gene MTOR 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
2217 154 0 67 30 0 3 98

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 2 1 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 1 2 0 17 15
likely benign 0 0 17 0 65
benign 0 0 15 65 0

All variants with conflicting interpretations #

Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.5043G>A (p.Pro1681=) rs55774271 0.01141
NM_004958.4(MTOR):c.7164+11A>G rs75573431 0.00820
NM_004958.4(MTOR):c.2779+16C>T rs28730689 0.00786
NM_004958.4(MTOR):c.3285+13C>T rs115330656 0.00644
NM_004958.4(MTOR):c.5614-16G>A rs112041289 0.00503
NM_004958.4(MTOR):c.2649+9C>T rs144243347 0.00459
NM_004958.4(MTOR):c.510G>C (p.Leu170=) rs12120294 0.00421
NM_004958.4(MTOR):c.6129C>T (p.Asn2043=) rs56096707 0.00384
NM_004958.4(MTOR):c.7455C>T (p.Asp2485=) rs41274506 0.00338
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00198
NM_004958.4(MTOR):c.1830C>T (p.Phe610=) rs139687094 0.00140
NM_004958.4(MTOR):c.7089+9A>G rs185470535 0.00111
NM_004958.4(MTOR):c.2301C>T (p.Leu767=) rs149428637 0.00085
NM_004958.4(MTOR):c.3630T>C (p.Asp1210=) rs377751542 0.00084
NM_004958.4(MTOR):c.2070G>A (p.Ala690=) rs55752564 0.00077
NM_004958.4(MTOR):c.7158T>C (p.Ala2386=) rs143035002 0.00058
NM_004958.4(MTOR):c.2472C>T (p.Ile824=) rs138875882 0.00056
NM_004958.4(MTOR):c.4260T>C (p.Asn1420=) rs191550317 0.00056
NM_004958.4(MTOR):c.3153G>A (p.Thr1051=) rs147272284 0.00055
NM_004958.4(MTOR):c.5187G>T (p.Gln1729His) rs140288227 0.00053
NM_004958.4(MTOR):c.7593A>G (p.Gln2531=) rs149314441 0.00052
NM_004958.4(MTOR):c.2805G>A (p.Leu935=) rs137863158 0.00049
NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile) rs139043855 0.00041
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser) rs146393749 0.00039
NM_004958.4(MTOR):c.4470-3C>T rs201255391 0.00036
NM_004958.4(MTOR):c.482A>G (p.Asn161Ser) rs151205593 0.00036
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met) rs142403193 0.00036
NM_004958.4(MTOR):c.3802-4A>G rs74052909 0.00035
NM_004958.4(MTOR):c.6819G>A (p.Pro2273=) rs138151561 0.00034
NM_004958.4(MTOR):c.7401C>G (p.Ala2467=) rs151027751 0.00034
NM_004958.4(MTOR):c.5244C>A (p.Ala1748=) rs144768080 0.00030
NM_004958.4(MTOR):c.505-8T>A rs376720790 0.00029
NM_004958.4(MTOR):c.4941T>G (p.His1647Gln) rs144984370 0.00026
NM_004958.4(MTOR):c.5952G>A (p.Thr1984=) rs192740864 0.00025
NM_004958.4(MTOR):c.1821G>A (p.Ala607=) rs55881943 0.00019
NM_004958.4(MTOR):c.1051C>T (p.Pro351Ser) rs147774167 0.00017
NM_004958.4(MTOR):c.4841T>C (p.Ile1614Thr) rs56299586 0.00016
NM_004958.4(MTOR):c.2857G>A (p.Val953Met) rs140269225 0.00014
NM_004958.4(MTOR):c.3247A>G (p.Met1083Val) rs56164650 0.00009
NM_004958.4(MTOR):c.1555G>A (p.Ala519Thr) rs201577876 0.00008
NM_004958.4(MTOR):c.1566C>T (p.Tyr522=) rs369221365 0.00007
NM_004958.4(MTOR):c.5494G>A (p.Ala1832Thr) rs369088781 0.00007
NM_004958.4(MTOR):c.7314C>T (p.Gly2438=) rs142544102 0.00006
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) rs141936187 0.00006
NM_004958.4(MTOR):c.395G>A (p.Arg132His) rs201093943 0.00005
NM_004958.4(MTOR):c.4475A>G (p.Gln1492Arg) rs145440700 0.00005
NM_004958.4(MTOR):c.5811+13G>A rs370120494 0.00005
NM_004958.4(MTOR):c.5812-19G>A rs374670621 0.00005
NM_004958.4(MTOR):c.2208+6C>T rs375405319 0.00004
NM_004958.4(MTOR):c.2412A>G (p.Glu804=) rs573881829 0.00004
NM_004958.4(MTOR):c.3352A>G (p.Ile1118Val) rs752832956 0.00004
NM_004958.4(MTOR):c.6675C>T (p.Tyr2225=) rs185523638 0.00004
NM_004958.4(MTOR):c.831G>T (p.Met277Ile) rs752049917 0.00004
NM_004958.4(MTOR):c.1855C>T (p.Arg619Cys) rs199712134 0.00003
NM_004958.4(MTOR):c.3481C>G (p.Arg1161Gly) rs202197441 0.00003
NM_004958.4(MTOR):c.4835G>A (p.Arg1612Gln) rs771517712 0.00003
NM_004958.4(MTOR):c.1942G>A (p.Ala648Thr) rs748207893 0.00002
NM_004958.4(MTOR):c.4612C>T (p.Arg1538Trp) rs202187935 0.00002
NM_004958.4(MTOR):c.5133C>T (p.Ile1711=) rs769706061 0.00002
NM_004958.4(MTOR):c.6585T>C (p.Asp2195=) rs753584607 0.00002
NM_004958.4(MTOR):c.7496A>G (p.Gln2499Arg) rs143119651 0.00002
NM_004958.4(MTOR):c.1500T>C (p.Asp500=) rs533405069 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_004958.4(MTOR):c.3269G>C (p.Arg1090Pro) rs573466361 0.00001
NM_004958.4(MTOR):c.3405G>A (p.Ala1135=) rs750981339 0.00001
NM_004958.4(MTOR):c.3791A>G (p.Asn1264Ser) rs1010121578 0.00001
NM_004958.4(MTOR):c.3801+7C>G rs558271480 0.00001
NM_004958.4(MTOR):c.5048G>A (p.Arg1683Gln) rs746116382 0.00001
NM_004958.4(MTOR):c.5473A>G (p.Ile1825Val) rs748927495 0.00001
NM_004958.4(MTOR):c.6107G>A (p.Arg2036His) rs1642913016 0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val) rs1010993658 0.00001
NM_004958.4(MTOR):c.6875A>G (p.Asn2292Ser) rs374052581 0.00001
NM_004958.4(MTOR):c.7272C>T (p.Asp2424=) rs549287479 0.00001
NM_004958.4(MTOR):c.1226-7T>C
NM_004958.4(MTOR):c.1226A>T (p.Asp409Val)
NM_004958.4(MTOR):c.1413-3_1413-2del rs780487698
NM_004958.4(MTOR):c.1713_1715del (p.Thr572del) rs1228888866
NM_004958.4(MTOR):c.272C>T (p.Ala91Val)
NM_004958.4(MTOR):c.3238C>T (p.Arg1080Cys)
NM_004958.4(MTOR):c.3578C>T (p.Pro1193Leu)
NM_004958.4(MTOR):c.3599T>C (p.Val1200Ala)
NM_004958.4(MTOR):c.3901C>T (p.Arg1301Cys) rs1646080085
NM_004958.4(MTOR):c.4444C>T (p.Arg1482Cys) rs1031980569
NM_004958.4(MTOR):c.4687-3T>C rs760066667
NM_004958.4(MTOR):c.4770G>A (p.Met1590Ile) rs1386078325
NM_004958.4(MTOR):c.50G>A (p.Ser17Asn) rs200587372
NM_004958.4(MTOR):c.5138C>T (p.Ala1713Val)
NM_004958.4(MTOR):c.5351G>A (p.Arg1784His)
NM_004958.4(MTOR):c.5432G>A (p.Arg1811His) rs751393552
NM_004958.4(MTOR):c.5485_5505dup (p.Thr1829_Ala1835dup) rs1643098054
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr) rs1057524049
NM_004958.4(MTOR):c.7017-4A>G
NM_004958.4(MTOR):c.7216G>A (p.Val2406Met) rs1557739557
NM_004958.4(MTOR):c.7570C>T (p.Gln2524Ter)

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