List of variants in gene IFT80, TRIM59-IFT80 studied for connective tissue disorder

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_020800.3(IFT80):c.462G>A (p.Ala154=)	rs34182424	0.02371
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe)	rs144099135	0.00742
NM_020800.3(IFT80):c.371-10C>A	rs188321058	0.00425
NM_020800.3(IFT80):c.1076+9C>G	rs139408398	0.00255
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala)	rs146065418	0.00048
NM_020800.3(IFT80):c.282G>A (p.Lys94=)	rs548358266	0.00026
NM_020800.3(IFT80):c.807T>C (p.Thr269=)	rs372419950	0.00014
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly)	rs554335278	0.00012
NM_020800.3(IFT80):c.639+5A>G	rs527856744	0.00012
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu)	rs184680258	0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=)	rs143660757	0.00011
NM_020800.3(IFT80):c.2156G>A (p.Arg719His)	rs551983792	0.00005
NM_020800.3(IFT80):c.546G>A (p.Leu182=)	rs543233802
NM_020800.3(IFT80):c.550-4A>T	rs769891425
NM_020800.3(IFT80):c.670A>T (p.Asn224Tyr)	rs2108360263

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