ClinVar Miner

Variants in gene SETX with conflicting interpretations

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 Variants with at least 2 submissions 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 kind of conflict
215 116 2 27 13 0 5 41

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 3 0 0
likely pathogenic 4 1 3 0 0
uncertain significance 3 3 0 11 5
likely benign 0 0 11 0 23
benign 0 0 5 23 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_001351527.1(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015046.5(SETX):c.1077T>C (p.Tyr359=) rs9411449
NM_015046.5(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.5(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.5(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.5(SETX):c.3147C>T (p.His1049=) rs3739921
NM_015046.5(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.5(SETX):c.3310C>G (p.Gln1104Glu) rs113831637
NM_015046.5(SETX):c.343_345delCTT (p.Leu115del) rs587776537
NM_015046.5(SETX):c.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.5(SETX):c.3576T>G (p.Asp1192Glu) rs1185193
NM_015046.5(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.5(SETX):c.3968G>A (p.Arg1323Gln) rs369542231
NM_015046.5(SETX):c.4156A>G (p.Ile1386Val) rs543573
NM_015046.5(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060
NM_015046.5(SETX):c.4273A>G (p.Lys1425Glu) rs534886444
NM_015046.5(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.5(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.5(SETX):c.4755T>G (p.Pro1585=) rs151237267
NM_015046.5(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.5(SETX):c.5563A>G (p.Thr1855Ala) rs2296871
NM_015046.5(SETX):c.5591_5592delAA (p.Gln1864Argfs) rs776470487
NM_015046.5(SETX):c.5811T>C (p.Asp1937=) rs2296869
NM_015046.5(SETX):c.59G>A (p.Arg20His) rs79740039
NM_015046.5(SETX):c.6106+14G>A rs73661157
NM_015046.5(SETX):c.6507G>A (p.Gly2169=) rs34073320
NM_015046.5(SETX):c.6935+8T>C rs17148873
NM_015046.5(SETX):c.7114G>A (p.Asp2372Asn) rs150673589
NM_015046.5(SETX):c.7121_7122delTG (p.Val2374Glyfs) rs765371601
NM_015046.5(SETX):c.7371T>C (p.His2457=) rs113071480
NM_015046.5(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.5(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015046.5(SETX):c.7759A>G (p.Ile2587Val) rs1056899
NM_015046.6(SETX):c.3010A>G (p.Asn1004Asp) rs77984885
NM_015046.6(SETX):c.3072_3074dup (p.Asp1024_Glu1025insAsp) rs572772837
NM_015046.6(SETX):c.5222dup (p.Asp1742Argfs) rs730882209
NM_015046.6(SETX):c.7100+9T>C rs200088320
NM_015046.6(SETX):c.7490G>A (p.Ser2497Asn) rs61735488
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475

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