ClinVar Miner

List of variants in gene RP1 reported by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006269.2(RP1):c.1462del (p.Glu488fs) rs878853327
NM_006269.2(RP1):c.1598_1601del (p.Arg533fs) rs878853329
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.742C>T (p.Gln248Ter) rs769156393

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