ClinVar Miner

List of variants in gene IFT140 studied for Retinitis pigmentosa

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) rs779007169

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