ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.3(IFT80):c.1187del (p.Leu396fs)
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.1961del (p.Asn654fs)
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478

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