ClinVar Miner

List of variants in gene RP1 reported as likely pathogenic for Retinitis pigmentosa

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006269.2(RP1):c.2026del (p.Ser676fs) rs1585563087
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2041dup (p.Ile681fs) rs1174193938
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.2083del (p.Ile695fs) rs1554519538
NM_006269.2(RP1):c.2115del (p.Gly706fs) rs1585563204
NM_006269.2(RP1):c.2206dup (p.Thr736fs) rs1554519554
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer) rs1554519577
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs) rs1554519635
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) rs1554519651
NM_006269.2(RP1):c.269del (p.His90fs) rs1585557752
NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter) rs879399888
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter) rs1585567204
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) rs527236106
NM_006269.2(RP1):c.615+1G>T rs886210482
NM_006269.2(RP1):c.650del (p.Gly217fs) rs527236105
NM_006269.2(RP1):c.830_831del (p.Ser277fs) rs1585561400

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