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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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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