ClinVar Miner

List of variants reported for Retinitis pigmentosa 3 by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1671del (p.Ala558fs) rs1569238659
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.248-28_248-10del rs1569260656
NM_001034853.2(RPGR):c.2993_2996del (p.Glu998fs) rs1569235677
NM_001034853.2(RPGR):c.423del (p.Ile142fs) rs1569258901

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