ClinVar Miner

List of variants in gene RPGR reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs) rs2067448565
NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs) rs2067408614
NM_001034853.2(RPGR):c.1573-12A>G rs2067221066
NM_001034853.2(RPGR):c.1836del (p.Asn612fs) rs2067201253
NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs) rs2147200451
NM_001034853.2(RPGR):c.2167del (p.Arg723fs) rs2067190976
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter) rs907856232
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) rs983693027
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.2501del (p.Glu834fs) rs2067178120
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter) rs1601922074
NM_001034853.2(RPGR):c.2610_2611del (p.Glu872fs)
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) rs2067166789
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs) rs2147195624
NM_001034853.2(RPGR):c.2689G>T (p.Glu897Ter) rs2067161460
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.2785dup (p.Glu929fs) rs2067155200
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
NM_001034853.2(RPGR):c.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2939del (p.Glu980fs)
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) rs1569235565
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter) rs1799325384
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs) rs1601918140
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.379del (p.Arg127fs) rs2067877633
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_001034853.2(RPGR):c.779-5T>G rs2067565504

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