ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter) rs781436346 0.00001
NC_000003.12:g.160307782_160307783insACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACATTACGAACC
NM_020800.3(IFT80):c.1066del (p.Tyr356fs) rs1386720978
NM_020800.3(IFT80):c.1187del (p.Leu396fs) rs1716383227
NM_020800.3(IFT80):c.120G>A (p.Trp40Ter)
NM_020800.3(IFT80):c.128T>G (p.Leu43Ter)
NM_020800.3(IFT80):c.1388del (p.Ile463fs) rs2108234807
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.1866dup (p.Met623fs)
NM_020800.3(IFT80):c.1961del (p.Asn654fs) rs779179710
NM_020800.3(IFT80):c.1961dup (p.Asn654fs)
NM_020800.3(IFT80):c.1989_1990del (p.Ile665fs)
NM_020800.3(IFT80):c.2085del (p.Tyr696fs)
NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter)
NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)
NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)
NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs) rs2108404264
NM_020800.3(IFT80):c.28G>T (p.Glu10Ter)
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.464G>A (p.Trp155Ter)
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter) rs1182330004
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer) rs1307708371
NM_020800.3(IFT80):c.639+1del rs2108362424
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.3(IFT80):c.847C>T (p.Gln283Ter)
NM_020800.3(IFT80):c.869dup (p.Asn290fs) rs773858865
NM_020800.3(IFT80):c.898_899del (p.Glu300fs) rs1450731316
NM_020800.3(IFT80):c.951del (p.Met318fs)
NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer) rs2108277143

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