ClinVar Miner

List of variants in gene RPGR reported as pathogenic by Institute of Medical Molecular Genetics, University of Zurich

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs) rs2067180395
NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs) rs2067179881
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs) rs2067164096
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648

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