ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_020800.3(IFT80):c.1076+9C>G rs139408398
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-19dup rs58665245
NM_020800.3(IFT80):c.371-10C>A rs188321058
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418

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