List of variants in gene combination IFT80, TRIM59-IFT80 reported as likely 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)
		ClinVar version:

Total variants: 12

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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.1076+1G>A
NM_020800.3(IFT80):c.1152-1G>C	rs777519235
NM_020800.3(IFT80):c.1380+2del	rs2108240653
NM_020800.3(IFT80):c.1516+2T>C
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe)	rs1553753582
NM_020800.3(IFT80):c.1664+1G>A
NM_020800.3(IFT80):c.440-2A>G	rs1721846338
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn)	rs372576954
NM_020800.3(IFT80):c.957+1G>A
NM_020800.3(IFT80):c.958-1G>T	rs202051267

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