List of variants in gene combination IFT140, LOC126862260 reported as pathogenic for retinal 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro)	rs145549969	0.00001
NM_014714.4(IFT140):c.2963del (p.Val988fs)
NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter)	rs777889289

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