ClinVar Miner

List of variants in gene RP1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1975A>T (p.Lys659Ter) rs1806028872
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2332A>T (p.Lys778Ter) rs1806041389
NM_006269.2(RP1):c.2352_2356del (p.Ile785fs) rs2129316571
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter) rs1365908727
NM_006269.2(RP1):c.271del (p.Ser91fs) rs1805854944
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006269.2(RP1):c.607G>A (p.Gly203Arg) rs786205589

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