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 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
534 22 0 12 23 0 3 35

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 6 2 0 0
likely pathogenic 6 0 2 0 0
uncertain significance 2 2 0 18 5
likely benign 0 0 18 0 6
benign 0 0 5 6 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00120
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_014714.4(IFT140):c.1360-14G>A rs369246649 0.00032
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521

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