List of variants in gene combination IFT80, TRIM59-IFT80 reported as pathogenic for bone disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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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.2101G>C (p.Ala701Pro)	rs137853116	0.00003
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter)	rs781436346	0.00001
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val)	rs1302753011	0.00001
NC_000003.12:g.160307782_160307783insACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACATTACGAACC
NM_020800.3(IFT80):c.1066del (p.Tyr356fs)	rs1386720978
NM_020800.3(IFT80):c.1187del (p.Leu396fs)	rs1716383227
NM_020800.3(IFT80):c.120G>A (p.Trp40Ter)
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr)	rs1716375276
NM_020800.3(IFT80):c.128T>G (p.Leu43Ter)
NM_020800.3(IFT80):c.1388del (p.Ile463fs)	rs2108234807
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe)	rs1553753582
NM_020800.3(IFT80):c.1646_1648del (p.Leu549del)	rs431905497
NM_020800.3(IFT80):c.1866dup (p.Met623fs)
NM_020800.3(IFT80):c.1961del (p.Asn654fs)	rs779179710
NM_020800.3(IFT80):c.1961dup (p.Asn654fs)
NM_020800.3(IFT80):c.1989_1990del (p.Ile665fs)
NM_020800.3(IFT80):c.2085del (p.Tyr696fs)
NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter)
NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)
NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)
NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs)	rs2108404264
NM_020800.3(IFT80):c.28G>T (p.Glu10Ter)
NM_020800.3(IFT80):c.315C>G (p.His105Gln)	rs137853115
NM_020800.3(IFT80):c.411dup (p.Met138fs)	rs778324141
NM_020800.3(IFT80):c.464G>A (p.Trp155Ter)
NM_020800.3(IFT80):c.487_490del (p.Leu163fs)	rs1553764834
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter)	rs1182330004
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn)	rs372576954
NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer)	rs1307708371
NM_020800.3(IFT80):c.639+1del	rs2108362424
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter)	rs201858128
NM_020800.3(IFT80):c.721G>A (p.Gly241Arg)	rs138004478
NM_020800.3(IFT80):c.847C>T (p.Gln283Ter)
NM_020800.3(IFT80):c.869dup (p.Asn290fs)	rs773858865
NM_020800.3(IFT80):c.898_899del (p.Glu300fs)	rs1450731316
NM_020800.3(IFT80):c.951del (p.Met318fs)
NM_020800.3(IFT80):c.958-1G>T	rs202051267
NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer)	rs2108277143

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