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 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
131 9 0 30 5 0 0 34

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 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 4 2
likely benign 0 0 4 0 28
benign 0 0 2 28 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
NM_000356.3(TCOF1):c.4146_4148delGAA (p.Lys1383del) rs151344581
NM_001135243.1(TCOF1):c.1133C>T (p.Ala378Val) rs75181211
NM_001135243.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915
NM_001135243.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_001135243.1(TCOF1):c.1448_1451delACAG (p.Asp483Valfs) rs1064794474
NM_001135243.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238
NM_001135243.1(TCOF1):c.1590G>A (p.Gly530=) rs145539529
NM_001135243.1(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_001135243.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163
NM_001135243.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421
NM_001135243.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239
NM_001135243.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001135243.1(TCOF1):c.2000G>A (p.Arg667Gln) rs146735293
NM_001135243.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297
NM_001135243.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846
NM_001135243.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638
NM_001135243.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020
NM_001135243.1(TCOF1):c.2766G>A (p.Ser922=) rs369562565
NM_001135243.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251
NM_001135243.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748
NM_001135243.1(TCOF1):c.3510C>T (p.His1170=) rs116354094
NM_001135243.1(TCOF1):c.3527C>G (p.Pro1176Arg) rs1136103
NM_001135243.1(TCOF1):c.3601-3C>T rs11743855
NM_001135243.1(TCOF1):c.3709G>A (p.Ala1237Thr) rs137960641
NM_001135243.1(TCOF1):c.4004A>G (p.Lys1335Arg) rs55980697
NM_001135243.1(TCOF1):c.4169C>T (p.Ala1390Val) rs15251
NM_001135243.1(TCOF1):c.4292G>C (p.Gly1431Ala) rs45491898
NM_001135243.1(TCOF1):c.4329_4331delGAA (p.Lys1444del) rs574569798
NM_001135243.1(TCOF1):c.4355_4356delAA (p.Lys1452Argfs) rs1554081108
NM_001135243.1(TCOF1):c.827_844del18 (p.Gly276_Glu281del) rs528897827
NM_001135244.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167
NM_001135244.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143
NM_001135244.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843
NM_001135244.1(TCOF1):c.579G>A (p.Ala193=) rs142965998

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