ClinVar Miner

Variants in gene IFT172 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:

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
1117 263 0 26 60 0 2 85

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 9 2 0 0
likely pathogenic 9 0 0 0 0
uncertain significance 2 0 0 59 2
likely benign 0 0 59 0 17
benign 0 0 2 17 0

All variants with conflicting interpretations #

Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02207
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00509
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00504
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00489
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_015662.3(IFT172):c.3357C>T (p.His1119=) rs76787560 0.00219
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00094
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp) rs139560074 0.00091
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00089
NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys) rs143520040 0.00061
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00061
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp) rs184506506 0.00036
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His) rs369466577 0.00028
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp) rs189236939 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys) rs147668131 0.00018
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00017
NM_015662.3(IFT172):c.98T>C (p.Val33Ala) rs200884031 0.00016
NM_015662.3(IFT172):c.4209G>C (p.Gln1403His) rs149065251 0.00014
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala) rs368343162 0.00013
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu) rs368373262 0.00013
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys) rs746340772 0.00011
NM_015662.3(IFT172):c.2159G>A (p.Arg720His) rs202089120 0.00010
NM_015662.3(IFT172):c.337-5C>T rs141086523 0.00010
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) rs540171862 0.00010
NM_015662.3(IFT172):c.2103C>A (p.Ile701=) rs138604630 0.00009
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015662.3(IFT172):c.1718G>A (p.Gly573Asp) rs140967266 0.00007
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr) rs370903625 0.00007
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_015662.3(IFT172):c.1168-7G>A rs373380537 0.00005
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln) rs370097039 0.00005
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00005
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr) rs377646246 0.00005
NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys) rs201356906 0.00005
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln) rs137868356 0.00004
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp) rs779152335 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2222G>A (p.Arg741His) rs1011923461 0.00004
NM_015662.3(IFT172):c.2443-3C>T rs774328767 0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) rs76076247 0.00004
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00004
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys) rs557292146 0.00004
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn) rs747544155 0.00003
NM_015662.3(IFT172):c.184-6T>A rs371658303 0.00003
NM_015662.3(IFT172):c.1964C>T (p.Ala655Val) rs370407165 0.00003
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys) rs762645007 0.00003
NM_015662.3(IFT172):c.318C>T (p.Cys106=) rs772983278 0.00003
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp) rs772012378 0.00002
NM_015662.3(IFT172):c.1005+10A>T rs771534291 0.00001
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln) rs755926439 0.00001
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys) rs187728607 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.2442+13C>T rs749766704 0.00001
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr) rs560379580 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.455_462dup (p.Val155fs) rs1455656088 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.529G>A (p.Val177Ile) rs754880269 0.00001
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile) rs751486617 0.00001
NM_015662.3(IFT172):c.666T>C (p.Tyr222=) rs753217975 0.00001
NM_015662.3(IFT172):c.812G>A (p.Arg271Gln) rs375847990 0.00001
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer) rs1453282096
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs) rs1369586774
NM_015662.3(IFT172):c.2456_2457del (p.Leu818_Phe819insTer)
NM_015662.3(IFT172):c.3229-9G>T rs775776080
NM_015662.3(IFT172):c.3369T>C (p.Asn1123=)
NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn) rs558148933
NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro) rs587777080
NM_015662.3(IFT172):c.786-18C>G rs773491435
NM_015662.3(IFT172):c.978dup (p.Glu327Ter) rs2465998558

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