List of variants in gene combination IFT80, TRIM59-IFT80 reported as likely benign for connective tissue disorder

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_020800.3(IFT80):c.1076+9C>G	rs139408398	0.00283
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala)	rs146065418	0.00048
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.1499A>G (p.Glu500Gly)	rs554335278	0.00001
NM_020800.3(IFT80):c.639+5A>G	rs527856744	0.00001
NM_020800.3(IFT80):c.282G>A (p.Lys94=)	rs548358266

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