ClinVar Miner

Variants in gene combination IFT140, LOC105371046 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
56 6 0 10 7 0 0 15

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 5 4
likely benign 0 0 5 0 9
benign 0 0 4 9 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) rs370562505
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532
NM_014714.4(IFT140):c.1524+3A>G rs149791451
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.491+7G>A rs187521755
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373

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