ClinVar Miner

Variants in gene TCOF1 with conflicting interpretations

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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
684 42 0 49 12 0 0 57

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 8 6
likely benign 0 0 8 0 48
benign 0 0 6 48 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239 0.18176
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09554
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08821
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020 0.02268
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297 0.02187
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01804
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01206
NM_001371623.1(TCOF1):c.162A>G (p.Gln54=) rs73270831 0.01015
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_001371623.1(TCOF1):c.579G>A (p.Ala193=) rs142965998 0.00558
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr) rs112332762 0.00260
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748 0.00197
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001371623.1(TCOF1):c.534C>T (p.Ser178=) rs141250614 0.00132
NM_001371623.1(TCOF1):c.1300C>T (p.Pro434Ser) rs143519179 0.00129
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys) rs139081024 0.00114
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) rs150637771 0.00102
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) rs147074393 0.00086
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00079
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys) rs146226591 0.00069
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser) rs150196623 0.00059
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690 0.00051
NM_001371623.1(TCOF1):c.2731G>T (p.Ala911Ser) rs557426457 0.00041
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251 0.00036
NM_001371623.1(TCOF1):c.2000G>A (p.Arg667Gln) rs146735293 0.00032
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001371623.1(TCOF1):c.1547C>T (p.Pro516Leu) rs138645438 0.00028
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177 0.00026
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu) rs148367422 0.00026
NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg) rs149117118 0.00025
NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg) rs141095369 0.00018
NM_001371623.1(TCOF1):c.3785G>T (p.Gly1262Val) rs375337164 0.00011
NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=) rs111705180 0.00009
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) rs756584594 0.00005
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser) rs558530968 0.00005
NM_001371623.1(TCOF1):c.630A>G (p.Thr210=) rs765654624 0.00005
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu) rs201043592 0.00004
NM_001371623.1(TCOF1):c.1867G>A (p.Ala623Thr) rs201126288 0.00001
NM_001371623.1(TCOF1):c.3518-3C>T rs543072968 0.00001
NM_001371623.1(TCOF1):c.3784+8A>G rs151344578 0.00001
NM_001371623.1(TCOF1):c.1564G>A (p.Gly522Ser)
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827

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