ClinVar Miner

List of variants in gene RPGR reported by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1754-3C>G rs2147201026
NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter) rs2147200625
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter) rs2147290510
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter) rs2147199844
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.3097dup (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.310G>A (p.Glu104Lys) rs1601978823
NM_001034853.2(RPGR):c.778+1del rs2147261624

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