ClinVar Miner

List of variants in gene combination IFT80, TRIM59-IFT80 reported as uncertain significance for Jeune thoracic dystrophy

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Total variants: 59
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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.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.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.1342G>A (p.Gly448Arg)
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val)
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.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115
NM_020800.3(IFT80):c.1836+5T>C
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.2100G>C (p.Arg700Ser)
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile)
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182
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.2224-19dup 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.371T>C (p.Val124Ala)
NM_020800.3(IFT80):c.511A>G (p.Ile171Val)
NM_020800.3(IFT80):c.571A>G (p.Ile191Val)
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.869A>G (p.Asn290Ser) rs138081429
NM_020800.3(IFT80):c.895G>A (p.Val299Met)
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)

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