ClinVar Miner

List of variants in gene IFT80, TRIM59-IFT80 studied for Jeune thoracic dystrophy

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Total variants: 94
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HGVS dbSNP
NM_020800.2(IFT80):c.-183C>T rs545378240
NM_020800.2(IFT80):c.-243G>A rs559709322
NM_020800.2(IFT80):c.-296G>A rs886058136
NM_020800.2(IFT80):c.-321A>G rs886058137
NM_020800.2(IFT80):c.-376G>C rs886058138
NM_020800.2(IFT80):c.-392T>G rs886058139
NM_020800.2(IFT80):c.-410G>T rs113776466
NM_020800.3(IFT80):c.*1210_*1211TA[8] rs150435844
NM_020800.3(IFT80):c.-31G>A rs886058135
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met)
NM_020800.3(IFT80):c.1076+9C>G rs139408398
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met)
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile) rs753617262
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) rs753617262
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu)
NM_020800.3(IFT80):c.1187del (p.Leu396fs)
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys)
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr)
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg)
NM_020800.3(IFT80):c.1341C>T (p.Thr447=) rs779074288
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg)
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val)
NM_020800.3(IFT80):c.1350G>A (p.Pro450=) rs201146135
NM_020800.3(IFT80):c.1350G>C (p.Pro450=) rs201146135
NM_020800.3(IFT80):c.1376A>G (p.His459Arg)
NM_020800.3(IFT80):c.1381-6T>A
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn)
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys)
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn)
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.1665-6del rs747849008
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115
NM_020800.3(IFT80):c.1836+5T>C
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys)
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873
NM_020800.3(IFT80):c.1961del (p.Asn654fs)
NM_020800.3(IFT80):c.2099+10A>G rs376944901
NM_020800.3(IFT80):c.2099+4A>G rs754398043
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile)
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157
NM_020800.3(IFT80):c.213A>C (p.Val71=) rs560970159
NM_020800.3(IFT80):c.2142A>T (p.Thr714=) rs751917876
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182
NM_020800.3(IFT80):c.2151T>A (p.Ala717=) rs749975436
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser) rs977361551
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259
NM_020800.3(IFT80):c.2223+4_2223+7del rs751433239
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-19dup rs58665245
NM_020800.3(IFT80):c.2225T>A (p.Leu742His)
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val)
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys)
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser)
NM_020800.3(IFT80):c.332C>T (p.Ala111Val)
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu)
NM_020800.3(IFT80):c.371-10C>A rs188321058
NM_020800.3(IFT80):c.371T>C (p.Val124Ala)
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424
NM_020800.3(IFT80):c.511A>G (p.Ile171Val)
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.571A>G (p.Ile191Val)
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser)
NM_020800.3(IFT80):c.640G>A (p.Val214Ile)
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys)
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn)
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020800.3(IFT80):c.758G>A (p.Arg253His)
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950
NM_020800.3(IFT80):c.819T>C (p.Phe273=) rs1576803474
NM_020800.3(IFT80):c.846T>C (p.Thr282=) rs141134950
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415
NM_020800.3(IFT80):c.895G>A (p.Val299Met)
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418
NM_020800.3(IFT80):c.938C>T (p.Thr313Met) rs753478409
NM_020800.3(IFT80):c.952A>T (p.Met318Leu)
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg)
NM_020800.3(IFT80):c.958-1G>T

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