ClinVar Miner

List of variants in gene RPGR reported by Human Genetics - Radboudumc,Radboudumc

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Total variants: 8
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HGVS dbSNP
NM_000328.3(RPGR):c.1671del (p.Ala558fs) rs1569238659
NM_000328.3(RPGR):c.1905+1042G>T rs1569235803
NM_000328.3(RPGR):c.1905+1088_1905+1091del rs1569235677
NM_000328.3(RPGR):c.1905+331_1905+332del rs1555961852
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.248-28_248-10del rs1569260656
NM_000328.3(RPGR):c.423del (p.Ile142fs) rs1569258901
NM_000328.3(RPGR):c.485_486del (p.Phe162fs) rs281865297

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