ClinVar Miner

List of variants in gene RPGR reported as uncertain significance by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2808A>T (p.Glu936Asp) rs187844918 0.01026
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly) rs751314374 0.00844
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001034853.2(RPGR):c.1721C>T (p.Thr574Met) rs202013664 0.00027
NM_001034853.2(RPGR):c.1508C>G (p.Thr503Arg) rs374555833 0.00004
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala) rs769641256 0.00003
NM_001034853.2(RPGR):c.1070G>T (p.Gly357Val)
NM_001034853.2(RPGR):c.1094C>T (p.Ala365Val)
NM_001034853.2(RPGR):c.1114G>T (p.Ala372Ser)
NM_001034853.2(RPGR):c.1415-7C>A
NM_001034853.2(RPGR):c.143C>T (p.Ala48Val)
NM_001034853.2(RPGR):c.1573-11A>G
NM_001034853.2(RPGR):c.1573-12A>G rs2067221066
NM_001034853.2(RPGR):c.1852G>A (p.Gly618Arg)
NM_001034853.2(RPGR):c.2344G>T (p.Gly782Trp)
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr) rs2067974263
NM_001034853.2(RPGR):c.2531A>G (p.Glu844Gly)
NM_001034853.2(RPGR):c.2540G>A (p.Gly847Glu)
NM_001034853.2(RPGR):c.2544G>A (p.Glu848=)
NM_001034853.2(RPGR):c.2547G>T (p.Gly849=)
NM_001034853.2(RPGR):c.2548G>A (p.Glu850Lys)
NM_001034853.2(RPGR):c.2552A>G (p.Glu851Gly)
NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys)
NM_001034853.2(RPGR):c.2572G>T (p.Gly858Trp)
NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly)
NM_001034853.2(RPGR):c.2618_2620del (p.Glu873del)
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del) rs2067126569
NM_001034853.2(RPGR):c.2658G>T (p.Glu886Asp)
NM_001034853.2(RPGR):c.2664A>T (p.Glu888Asp)
NM_001034853.2(RPGR):c.2715A>G (p.Glu905=)
NM_001034853.2(RPGR):c.2715A>T (p.Glu905Asp)
NM_001034853.2(RPGR):c.2796G>A (p.Gly932=)
NM_001034853.2(RPGR):c.2799A>T (p.Glu933Asp)
NM_001034853.2(RPGR):c.2819A>C (p.Glu940Ala)
NM_001034853.2(RPGR):c.29-6T>A
NM_001034853.2(RPGR):c.2915G>T (p.Gly972Val)
NM_001034853.2(RPGR):c.3222AGA[1] (p.Glu1076del)
NM_001034853.2(RPGR):c.3423G>C (p.Trp1141Cys)
NM_001034853.2(RPGR):c.370A>C (p.Thr124Pro)
NM_001034853.2(RPGR):c.571C>T (p.Pro191Ser)
NM_001034853.2(RPGR):c.805G>C (p.Gly269Arg)
NM_001034853.2(RPGR):c.878G>T (p.Arg293Met)
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu) rs878853375
NM_001034853.2(RPGR):c.958G>A (p.Gly320Arg) rs62640593

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