ClinVar Miner

Variants in gene SETX 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
1847 221 0 85 54 0 9 133

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 15 5 1 0
likely pathogenic 15 0 4 1 0
uncertain significance 5 4 0 48 22
likely benign 1 1 48 0 70
benign 0 0 22 70 0

All variants with conflicting interpretations #

Total variants: 133
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68136
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44635
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31936
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31913
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.05027
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01807
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01473
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01405
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00639
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00515
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00449
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00434
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00423
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00398
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00277
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00247
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00210
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00164
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00143
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00117
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00108
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00076
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00070
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00070
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00067
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024 0.00059
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00050
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00048
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00038
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00029
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412 0.00026
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00024
NM_015046.7(SETX):c.1392A>G (p.Ser464=) rs144164119 0.00020
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00017
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00017
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00017
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488 0.00013
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00011
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) rs144607919 0.00011
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00010
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00007
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) rs190841601 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.3505A>G (p.Met1169Val) rs573849874 0.00006
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00005
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441 0.00004
NM_015046.7(SETX):c.2862G>A (p.Thr954=) rs149610510 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00003
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386 0.00003
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe) rs370551247 0.00002
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val) rs376678876 0.00002
NM_015046.7(SETX):c.4683G>C (p.Gln1561His) rs772991134 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015046.7(SETX):c.855T>C (p.Pro285=) rs141736312 0.00002
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser) rs762175796 0.00001
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) rs1169623576 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.6106+3dup rs1844639633 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.80C>T (p.Ser27Phe) rs374733340 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs) rs1356107030
NM_015046.7(SETX):c.5243dup (p.Leu1750fs) rs754706851
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.6655-8C>T
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6848_6851del
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs) rs765371601
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475

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