List of variants in gene IFT140, LOC126862260 studied for Retinitis pigmentosa 80

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.2768+184A>G	rs2745178	0.97367
NM_014714.4(IFT140):c.2919C>T (p.Ala973=)	rs2235640	0.19119
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro)	rs145549969	0.00001
NM_014714.4(IFT140):c.2776A>T (p.Lys926Ter)
NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)	rs2141175065
NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter)	rs777889289

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