List of variants in gene combination IFT80, TRIM59-IFT80 reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_020800.3(IFT80):c.778-177C>T	rs2152425	0.58214
NM_020800.3(IFT80):c.1151+22C>T	rs4680576	0.52429
NM_020800.3(IFT80):c.1076+213C>T	rs6791056	0.40095
NM_020800.3(IFT80):c.1076+164G>A	rs6790951	0.40093
NM_020800.3(IFT80):c.2099+149A>G	rs10936199	0.31664
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser)	rs6778728	0.31629
NM_020800.3(IFT80):c.1316-21A>G	rs2275151	0.19381
NM_020800.3(IFT80):c.1926+13T>C	rs3737214	0.17528
NM_020800.3(IFT80):c.*42G>A	rs16831149	0.15568
NM_020800.3(IFT80):c.370+198C>A	rs62272197	0.08093
NM_020800.3(IFT80):c.1380+144C>T	rs2275150	0.07974
NM_020800.3(IFT80):c.639+171C>T	rs62272195	0.04694
NM_020800.3(IFT80):c.1315+29C>G	rs9637414	0.04558
NM_020800.3(IFT80):c.958-63C>T	rs2275153	0.04557
NM_020800.3(IFT80):c.-46-213T>A	rs60668380	0.03307
NM_020800.3(IFT80):c.370+231C>T	rs73154564	0.02937
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)	rs150370681	0.00038
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)	rs138081429	0.00011
NM_020800.3(IFT80):c.192G>T (p.Trp64Cys)	rs151263345	0.00007
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu)	rs753617262	0.00005
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)	rs137853116	0.00003
NM_020800.3(IFT80):c.1315del (p.Lys438_Ile439insTer)	rs1453328017
NM_020800.3(IFT80):c.1406A>G (p.Asp469Gly)	rs1057523840
NM_020800.3(IFT80):c.1646_1648del (p.Leu549del)	rs431905497
NM_020800.3(IFT80):c.1836+123del	rs200445193
NM_020800.3(IFT80):c.1936G>C (p.Val646Leu)	rs752617502
NM_020800.3(IFT80):c.2224-10del	rs58665245
NM_020800.3(IFT80):c.2224-10dup	rs58665245
NM_020800.3(IFT80):c.38-150dup	rs111650677
NM_020800.3(IFT80):c.869dup (p.Asn290fs)	rs773858865
NM_020800.3(IFT80):c.962G>A (p.Arg321His)	rs766354291

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