ClinVar Miner

Variants in gene IFT172 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp) rs139560074 0.00091
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.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.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.877G>A (p.Ala293Thr) rs370903625 0.00007
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00005
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.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.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.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln) rs755926439 0.00001
NM_015662.3(IFT172):c.2442+13C>T rs749766704 0.00001
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile) rs751486617 0.00001
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.3229-9G>T rs775776080
NM_015662.3(IFT172):c.3369T>C (p.Asn1123=)
NM_015662.3(IFT172):c.786-18C>G rs773491435

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.