ClinVar Miner

Variants in gene IFT140 with conflicting interpretations

See also:
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
914 46 0 22 52 0 4 75

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 5 2 0 0
likely pathogenic 5 0 3 0 0
uncertain significance 2 3 0 45 8
likely benign 0 0 45 0 17
benign 0 0 8 17 0

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00228
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00220
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) rs112545558 0.00122
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) rs202189990 0.00109
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) rs144726977 0.00104
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly) rs140941344 0.00083
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634 0.00079
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) rs137925718 0.00073
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016 0.00048
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) rs146464282 0.00043
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=) rs143899594 0.00037
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575 0.00031
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_014714.4(IFT140):c.2583C>T (p.Asp861=) rs576060920 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_014714.4(IFT140):c.2724C>T (p.Ala908=) rs138166567 0.00011
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_014714.4(IFT140):c.2067+4C>T rs111785408 0.00008
NM_014714.4(IFT140):c.1653-14C>T rs148433720 0.00007
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139 0.00006
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698 0.00004
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) rs375975334 0.00004
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=) rs368713443 0.00004
NM_014714.4(IFT140):c.4182+15C>T rs374874160 0.00004
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) rs750381445 0.00004
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) rs554196965 0.00003
NM_014714.4(IFT140):c.2692G>A (p.Val898Met) rs369457143 0.00003
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097 0.00002
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) rs765923171 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) rs775156902 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949 0.00001
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314 0.00001
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) rs752664070 0.00001
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=) rs776522454 0.00001
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) rs773095902 0.00001
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) rs200161877 0.00001
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly) rs548992623
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) rs763709094
NM_014714.4(IFT140):c.3660+13C>T rs767836990
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.