List of variants reported as pathogenic for Retinitis pigmentosa 80 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.2399+1G>T	rs376586707	0.00006
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)	rs387907192	0.00004
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)	rs758052634	0.00001
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro)	rs145549969	0.00001
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro)	rs559371453	0.00001
NM_014714.4(IFT140):c.985T>C (p.Cys329Arg)	rs1441549097	0.00001
NM_014714.4(IFT140):c.1898_1901del (p.Asn633fs)	rs1555487977

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