List of variants in gene combination IFT140, LOC105371046 reported as uncertain significance for Retinitis pigmentosa 80

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.903-5T>G	rs900599017	0.00004
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)	rs764537319	0.00003
NM_014714.4(IFT140):c.634+5G>A	rs1323647622	0.00001
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del)	rs2035068981
NM_014714.4(IFT140):c.89T>C (p.Leu30Ser)	rs2142099911
NM_014714.4(IFT140):c.997T>C (p.Cys333Arg)	rs2141851372

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