ClinVar Miner

List of variants in gene IFT140 reported as pathogenic for Retinitis pigmentosa 80

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Total variants: 6
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HGVS dbSNP
NM_014714.4(IFT140):c.1898_1901del (p.Asn633fs) rs1555487977
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192
NM_014714.4(IFT140):c.2399+1G>T rs376586707
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro) rs145549969
NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter) rs777889289
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro) rs559371453

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