ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP
NM_020800.3(IFT80):c.1341C>T (p.Thr447=) rs779074288
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.1665-6del rs747849008
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346
NM_020800.3(IFT80):c.2099+10A>G rs376944901
NM_020800.3(IFT80):c.2099+4A>G rs754398043
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.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.2224-10del rs58665245
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
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.880G>A (p.Val294Ile) rs148926415
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501

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