ClinVar Miner

List of variants in gene RPGR reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 347
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2863T>G (p.Trp955Gly) rs765224300 0.29559
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly) rs751314374 0.00844
NM_001034853.2(RPGR):c.1414+5C>T rs367627674 0.00039
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu) rs202156474 0.00037
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001034853.2(RPGR):c.1059+363G>A rs1410177435 0.00010
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His) rs762173989 0.00005
NM_001034853.2(RPGR):c.1245+6A>G rs886038281 0.00005
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu) rs765979499 0.00004
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.1309C>T (p.Leu437Phe) rs531930581 0.00002
NM_001034853.2(RPGR):c.32C>T (p.Ser11Leu) rs143975950 0.00002
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg) rs771616566 0.00002
NM_000328.3(RPGR):c.2337C>G (p.Ile779Met) rs1342166642 0.00001
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe) rs62638628 0.00001
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg) rs794727019 0.00001
NM_001034853.2(RPGR):c.1506+6G>C rs1464455035 0.00001
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn) rs1159969109 0.00001
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly) rs1222240619 0.00001
NM_001034853.2(RPGR):c.1777G>A (p.Ala593Thr) rs1490761121 0.00001
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg) rs749852225 0.00001
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly) rs1364555173 0.00001
NM_001034853.2(RPGR):c.3151G>A (p.Glu1051Lys) rs1235791633 0.00001
NM_001034853.2(RPGR):c.746C>T (p.Ala249Val) rs1251721610 0.00001
NM_001034853.2(RPGR):c.82G>A (p.Gly28Ser) rs779957555 0.00001
NC_000023.10:g.(?_38146328)_(38150297_?)del
NC_000023.10:g.(?_38169848)_(38182797_?)dup
NC_000023.11:g.(?_38269606)_(38269852_?)dup
NC_000023.11:g.(?_38269606)_(38310793_?)dup
NM_000328.2(RPGR):c.-168-?_*456+?dup
NM_000328.3(RPGR):c.1906-12A>G
NM_000328.3(RPGR):c.1949T>C (p.Val650Ala)
NM_000328.3(RPGR):c.1996G>C (p.Val666Leu) rs2147169038
NM_000328.3(RPGR):c.1999G>A (p.Gly667Arg)
NM_000328.3(RPGR):c.2009A>G (p.Glu670Gly)
NM_000328.3(RPGR):c.2012G>A (p.Ser671Asn)
NM_000328.3(RPGR):c.2023G>A (p.Gly675Ser)
NM_000328.3(RPGR):c.2072C>T (p.Ser691Leu)
NM_000328.3(RPGR):c.2087A>G (p.Glu696Gly)
NM_000328.3(RPGR):c.2102C>T (p.Ala701Val)
NM_000328.3(RPGR):c.2117G>A (p.Arg706Gln)
NM_000328.3(RPGR):c.2120C>T (p.Ala707Val)
NM_000328.3(RPGR):c.2135A>G (p.Asn712Ser)
NM_000328.3(RPGR):c.2149+4T>G rs945212131
NM_000328.3(RPGR):c.2150-7A>G
NM_000328.3(RPGR):c.2156T>G (p.Met719Arg) rs1399519309
NM_000328.3(RPGR):c.2224A>G (p.Met742Val)
NM_000328.3(RPGR):c.2241+11_2241+12delinsCC
NM_000328.3(RPGR):c.2241+5G>A
NM_000328.3(RPGR):c.2241G>A (p.Lys747=)
NM_000328.3(RPGR):c.2242A>G (p.Ile748Val)
NM_000328.3(RPGR):c.2336T>C (p.Ile779Thr)
NM_000328.3(RPGR):c.2339T>C (p.Ile780Thr)
NM_000328.3(RPGR):c.2339T>G (p.Ile780Ser)
NM_001034853.2(RPGR):c.1001T>C (p.Phe334Ser)
NM_001034853.2(RPGR):c.1007A>G (p.Asn336Ser)
NM_001034853.2(RPGR):c.1019C>A (p.Pro340His)
NM_001034853.2(RPGR):c.107T>C (p.Val36Ala)
NM_001034853.2(RPGR):c.1097CTC[1] (p.Pro367del) rs1357261084
NM_001034853.2(RPGR):c.1099C>T (p.Pro367Ser)
NM_001034853.2(RPGR):c.109C>T (p.Pro37Ser)
NM_001034853.2(RPGR):c.1123A>G (p.Ile375Val)
NM_001034853.2(RPGR):c.1132G>A (p.Asp378Asn) rs866428513
NM_001034853.2(RPGR):c.1147A>T (p.Thr383Ser)
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
NM_001034853.2(RPGR):c.1201G>T (p.Val401Leu)
NM_001034853.2(RPGR):c.1208A>G (p.Gln403Arg)
NM_001034853.2(RPGR):c.1220C>T (p.Ser407Leu)
NM_001034853.2(RPGR):c.1226G>A (p.Arg409His)
NM_001034853.2(RPGR):c.1235G>A (p.Arg412Gln)
NM_001034853.2(RPGR):c.1238G>A (p.Arg413Lys)
NM_001034853.2(RPGR):c.1245G>A (p.Arg415=)
NM_001034853.2(RPGR):c.1246-10T>C
NM_001034853.2(RPGR):c.1246-3A>G
NM_001034853.2(RPGR):c.1256C>A (p.Pro419Gln)
NM_001034853.2(RPGR):c.125G>A (p.Cys42Tyr)
NM_001034853.2(RPGR):c.125G>T (p.Cys42Phe)
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu) rs2067408372
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu) rs62638630
NM_001034853.2(RPGR):c.1320T>C (p.Cys440=)
NM_001034853.2(RPGR):c.1331A>G (p.Asn444Ser) rs756926974
NM_001034853.2(RPGR):c.134A>T (p.Glu45Val) rs2147291597
NM_001034853.2(RPGR):c.1381T>C (p.Ser461Pro)
NM_001034853.2(RPGR):c.1393C>G (p.Leu465Val)
NM_001034853.2(RPGR):c.1396A>G (p.Met466Val)
NM_001034853.2(RPGR):c.1398G>A (p.Met466Ile) rs1237734243
NM_001034853.2(RPGR):c.1415-3C>G
NM_001034853.2(RPGR):c.1445C>T (p.Ala482Val)
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val) rs2147212880
NM_001034853.2(RPGR):c.1484A>G (p.Glu495Gly)
NM_001034853.2(RPGR):c.1486A>C (p.Thr496Pro)
NM_001034853.2(RPGR):c.1490C>T (p.Thr497Ile) rs2067277205
NM_001034853.2(RPGR):c.1493A>G (p.Asp498Gly)
NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe)
NM_001034853.2(RPGR):c.1505T>C (p.Met502Thr)
NM_001034853.2(RPGR):c.1506+3A>G rs2147212763
NM_001034853.2(RPGR):c.1519A>G (p.Ser507Gly)
NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala)
NM_001034853.2(RPGR):c.1532A>T (p.Asn511Ile)
NM_001034853.2(RPGR):c.1572+6del
NM_001034853.2(RPGR):c.1573-18_1573-15del
NM_001034853.2(RPGR):c.1573-3C>G rs1601926845
NM_001034853.2(RPGR):c.1586T>A (p.Ile529Asn)
NM_001034853.2(RPGR):c.158A>G (p.Asn53Ser)
NM_001034853.2(RPGR):c.1595T>G (p.Leu532Arg) rs2147203710
NM_001034853.2(RPGR):c.1597A>G (p.Thr533Ala)
NM_001034853.2(RPGR):c.1600C>G (p.Gln534Glu)
NM_001034853.2(RPGR):c.1650G>A (p.Met550Ile)
NM_001034853.2(RPGR):c.1657A>G (p.Met553Val)
NM_001034853.2(RPGR):c.1680ACA[1] (p.Gln561del) rs1208778002
NM_001034853.2(RPGR):c.1686T>G (p.His562Gln)
NM_001034853.2(RPGR):c.1693C>G (p.Gln565Glu)
NM_001034853.2(RPGR):c.1707G>T (p.Met569Ile)
NM_001034853.2(RPGR):c.1749A>G (p.Glu583=) rs1060501179
NM_001034853.2(RPGR):c.1754-2dup rs2067203496
NM_001034853.2(RPGR):c.1754-3C>G rs2147201026
NM_001034853.2(RPGR):c.1754-7T>G
NM_001034853.2(RPGR):c.1762GAG[1] (p.Glu589del)
NM_001034853.2(RPGR):c.1768A>G (p.Lys590Glu)
NM_001034853.2(RPGR):c.1826A>G (p.Asn609Ser) rs1555961989
NM_001034853.2(RPGR):c.1841A>C (p.Lys614Thr)
NM_001034853.2(RPGR):c.1859A>G (p.Lys620Arg)
NM_001034853.2(RPGR):c.193G>T (p.Gly65Cys)
NM_001034853.2(RPGR):c.1946A>G (p.Asp649Gly)
NM_001034853.2(RPGR):c.1946A>T (p.Asp649Val)
NM_001034853.2(RPGR):c.1948G>A (p.Gly650Arg)
NM_001034853.2(RPGR):c.1954G>A (p.Glu652Lys) rs2147200398
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser)
NM_001034853.2(RPGR):c.1987A>G (p.Ser663Gly)
NM_001034853.2(RPGR):c.202G>A (p.Gly68Arg)
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.2039A>G (p.Asp680Gly)
NM_001034853.2(RPGR):c.203G>A (p.Gly68Glu)
NM_001034853.2(RPGR):c.2053G>C (p.Glu685Gln)
NM_001034853.2(RPGR):c.2056A>G (p.Met686Val)
NM_001034853.2(RPGR):c.2086C>G (p.Leu696Val)
NM_001034853.2(RPGR):c.2094G>T (p.Glu698Asp)
NM_001034853.2(RPGR):c.2188_2189dup (p.Gly731fs)
NM_001034853.2(RPGR):c.2192G>C (p.Gly731Ala)
NM_001034853.2(RPGR):c.2203C>T (p.His735Tyr)
NM_001034853.2(RPGR):c.2203_2226del (p.His735_Glu742del) rs768423834
NM_001034853.2(RPGR):c.2215G>A (p.Glu739Lys)
NM_001034853.2(RPGR):c.2222AGG[1] (p.Glu742del)
NM_001034853.2(RPGR):c.2291_2293del (p.Val764del)
NM_001034853.2(RPGR):c.2302C>T (p.Arg768Cys)
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)
NM_001034853.2(RPGR):c.2310GGA[1] (p.Glu772del)
NM_001034853.2(RPGR):c.2327A>G (p.Lys776Arg)
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val)
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del) rs1287687440
NM_001034853.2(RPGR):c.2366AAG[1] (p.Glu790del)
NM_001034853.2(RPGR):c.2389_2409del (p.Glu797_Gly803del)
NM_001034853.2(RPGR):c.2399A>G (p.Glu800Gly)
NM_001034853.2(RPGR):c.2407G>A (p.Gly803Arg)
NM_001034853.2(RPGR):c.2408G>A (p.Gly803Glu)
NM_001034853.2(RPGR):c.2425G>C (p.Glu809Gln)
NM_001034853.2(RPGR):c.2426AGG[1] (p.Glu810del) rs745480662
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[3] (p.Glu820_Glu821insGlyGlyGluValGlu)
NM_001034853.2(RPGR):c.2449G>A (p.Gly817Arg)
NM_001034853.2(RPGR):c.2464G>A (p.Gly822Arg)
NM_001034853.2(RPGR):c.2465G>A (p.Gly822Glu)
NM_001034853.2(RPGR):c.247+5G>T
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter) rs2067179538
NM_001034853.2(RPGR):c.247G>T (p.Ala83Ser)
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
NM_001034853.2(RPGR):c.2487_2520delinsGGAGGAGGGT (p.Glu832_Glu839del)
NM_001034853.2(RPGR):c.2489AGG[2] (p.Glu832del)
NM_001034853.2(RPGR):c.2495_2520delinsGT (p.Glu832_Glu839del)
NM_001034853.2(RPGR):c.2496_2516del (p.829EEEEGEG[3])
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[4] (p.Gly856_Lys857insGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGly)
NM_001034853.2(RPGR):c.2520_2561del (p.829EEEEGEG[2])
NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
NM_001034853.2(RPGR):c.2527G>A (p.Glu843Lys)
NM_001034853.2(RPGR):c.2539G>A (p.Gly847Arg) rs1454586504
NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys)
NM_001034853.2(RPGR):c.2564A>G (p.Glu855Gly)
NM_001034853.2(RPGR):c.2566G>A (p.Gly856Arg)
NM_001034853.2(RPGR):c.2577GGAAGAAGG[1] (p.861EGE[1])
NM_001034853.2(RPGR):c.2589_2603del (p.Gly865_Glu869del)
NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del) rs771584745
NM_001034853.2(RPGR):c.2595_2612del (p.Gly867_Glu872del)
NM_001034853.2(RPGR):c.2598_2599insCGGGAGGAAGAAGGGGAGGAAGGAGAA (p.Glu866_Gly867insArgGluGluGluGlyGluGluGlyGlu)
NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly)
NM_001034853.2(RPGR):c.2609A>G (p.Glu870Gly)
NM_001034853.2(RPGR):c.2612G>A (p.Gly871Glu)
NM_001034853.2(RPGR):c.2618_2632del (p.Glu873_Glu877del)
NM_001034853.2(RPGR):c.2618_2632dup (p.Glu877_Gly878insGluGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2621_2623del (p.Gly874del)
NM_001034853.2(RPGR):c.2633_2640delinsAAGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAA (p.Gly878_Glu879delinsGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGly)
NM_001034853.2(RPGR):c.2634_2684del (p.886EGEEEGEGEGEEEEGEG[1])
NM_001034853.2(RPGR):c.2640GGA[1] (p.Glu882del)
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.883GEGEGEEE[1])
NM_001034853.2(RPGR):c.2653G>A (p.Gly885Arg)
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1])
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
NM_001034853.2(RPGR):c.2660G>A (p.Gly887Glu)
NM_001034853.2(RPGR):c.2666_2671del (p.Glu889_Glu890del)
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[1] (p.890EGEGEGEEE[1])
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[3] (p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu)
NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val)
NM_001034853.2(RPGR):c.2680_2757dup (p.Gly919_Lys920insGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
NM_001034853.2(RPGR):c.2682_2696del (p.Glu897_Glu901del)
NM_001034853.2(RPGR):c.2684G>A (p.Gly895Glu)
NM_001034853.2(RPGR):c.2686G>A (p.Glu896Lys)
NM_001034853.2(RPGR):c.2693A>G (p.Glu898Gly)
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.900GEGEGEEE[1])
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3]) rs757402645
NM_001034853.2(RPGR):c.2720A>G (p.Glu907Gly)
NM_001034853.2(RPGR):c.2725_2757dup (p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyGluGly)
NM_001034853.2(RPGR):c.2729G>T (p.Gly910Val)
NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
NM_001034853.2(RPGR):c.2733_2819dup (p.Glu942_Asp943insGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2747_2749del (p.Glu916del)
NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del) rs2067156760
NM_001034853.2(RPGR):c.2767G>A (p.Glu923Lys)
NM_001034853.2(RPGR):c.2774_2776del (p.Gly925del)
NM_001034853.2(RPGR):c.2778_2813dup (p.Glu938_Gly939insGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
NM_001034853.2(RPGR):c.277G>T (p.Ala93Ser)
NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
NM_001034853.2(RPGR):c.2784_2789del (p.928GE[2])
NM_001034853.2(RPGR):c.2790_2810del (p.Glu934_Glu940del)
NM_001034853.2(RPGR):c.2802GGA[1] (p.Glu936del) rs1238945219
NM_001034853.2(RPGR):c.2803G>A (p.Glu935Lys)
NM_001034853.2(RPGR):c.2805_2906del (p.Glu936_Glu969del)
NM_001034853.2(RPGR):c.2810_2812del (p.Gly937del)
NM_001034853.2(RPGR):c.2811_2816del (p.937GE[2])
NM_001034853.2(RPGR):c.2815_2862del (p.Gly939_Glu954del) rs1569236115
NM_001034853.2(RPGR):c.2820AGGGGAGGATGGAGAAGGGGA[3] (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2820_2821insAGGGAGGATGGAGAAGGGGAA (p.Glu940_Gly941insArgGluAspGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2829T>A (p.Asp943Glu)
NM_001034853.2(RPGR):c.2835_2840dup (p.Glu949_Glu950insGlyGlu)
NM_001034853.2(RPGR):c.2836G>T (p.Gly946Trp)
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGA (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGlu)
NM_001034853.2(RPGR):c.2841_2863delinsAGGGGAGGATGGAGAAG (p.Glu950_Trp955delinsAspGlyGluGly)
NM_001034853.2(RPGR):c.2845G>A (p.Glu949Lys)
NM_001034853.2(RPGR):c.2847_2856delinsGGAT (p.Glu950_Glu952delinsAsp)
NM_001034853.2(RPGR):c.2850GGA[1] (p.Glu952del)
NM_001034853.2(RPGR):c.2852A>G (p.Glu951Gly)
NM_001034853.2(RPGR):c.2854G>A (p.Glu952Lys)
NM_001034853.2(RPGR):c.2863_2889dup (p.Glu963_Gly964insTrpGluGlyGluGluGluGluGlyGlu)
NM_001034853.2(RPGR):c.2875_2876insGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAG (p.944_958GE[3]EEEGEWEGEGEEGEGEGEEEEGEWEGE[1]) rs1569236068
NM_001034853.2(RPGR):c.2876A>G (p.Glu959Gly)
NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del)
NM_001034853.2(RPGR):c.287G>A (p.Arg96Lys) rs2147285696
NM_001034853.2(RPGR):c.29-3C>T
NM_001034853.2(RPGR):c.2904_2906dup (p.Glu969_Gly970insGlu)
NM_001034853.2(RPGR):c.2906_2907insGGAAGGAGAATGGGAGGGGGAAGAGGA (p.Glu969_Gly970insGluGlyGluTrpGluGlyGluGluGlu)
NM_001034853.2(RPGR):c.2914G>A (p.Gly972Arg)
NM_001034853.2(RPGR):c.2921_2947dup (p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2927_2941del (p.971EGEGE[1])
NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1])
NM_001034853.2(RPGR):c.2933A>G (p.Glu978Gly)
NM_001034853.2(RPGR):c.2935G>T (p.Gly979Trp)
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGAAGGGGA (p.Glu984_Glu985insGlyGluGlyGluGluGlu)
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
NM_001034853.2(RPGR):c.2946_2951del (p.Glu984_Glu985del) rs767210576
NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg)
NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1]) rs761365864
NM_001034853.2(RPGR):c.2986G>A (p.Glu996Lys)
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del) rs1356107537
NM_001034853.2(RPGR):c.2988_2999dup (p.Glu1004_Gly1005insGluGluGlyGlu)
NM_001034853.2(RPGR):c.2997_3008del (p.993EEGE[2])
NM_001034853.2(RPGR):c.3002AAG[1] (p.Glu1002del)
NM_001034853.2(RPGR):c.3008_3010del (p.Gly1003del)
NM_001034853.2(RPGR):c.3018G>C (p.Glu1006Asp)
NM_001034853.2(RPGR):c.3020AAG[1] (p.Glu1008del)
NM_001034853.2(RPGR):c.3020_3031del (p.Glu1007_Glu1010del)
NM_001034853.2(RPGR):c.3022G>A (p.Glu1008Lys)
NM_001034853.2(RPGR):c.3032_3043del (p.1009GE[1])
NM_001034853.2(RPGR):c.3044A>G (p.Glu1015Gly)
NM_001034853.2(RPGR):c.3051_3065del (p.Glu1018_Glu1022del)
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu)
NM_001034853.2(RPGR):c.3070G>C (p.Glu1024Gln)
NM_001034853.2(RPGR):c.3071A>G (p.Glu1024Gly)
NM_001034853.2(RPGR):c.308C>T (p.Thr103Ile) rs2147285611
NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])
NM_001034853.2(RPGR):c.310+3A>G rs62638640
NM_001034853.2(RPGR):c.3143AGG[1] (p.Glu1049del)
NM_001034853.2(RPGR):c.3149G>A (p.Gly1050Glu)
NM_001034853.2(RPGR):c.3167GGA[1] (p.Arg1057del)
NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp)
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001034853.2(RPGR):c.3186G>C (p.Glu1062Asp)
NM_001034853.2(RPGR):c.3199G>A (p.Gly1067Arg)
NM_001034853.2(RPGR):c.3266G>A (p.Ser1089Asn)
NM_001034853.2(RPGR):c.3271A>G (p.Ile1091Val)
NM_001034853.2(RPGR):c.3317A>T (p.Lys1106Met)
NM_001034853.2(RPGR):c.3342T>G (p.Asn1114Lys)
NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
NM_001034853.2(RPGR):c.3377C>T (p.Ser1126Leu)
NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
NM_001034853.2(RPGR):c.3396del (p.Asn1132fs)
NM_001034853.2(RPGR):c.3397G>A (p.Gly1133Arg)
NM_001034853.2(RPGR):c.3416A>C (p.Lys1139Thr)
NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
NM_001034853.2(RPGR):c.344A>G (p.Asn115Ser) rs2147280549
NM_001034853.2(RPGR):c.353A>C (p.Gln118Pro)
NM_001034853.2(RPGR):c.354G>C (p.Gln118His) rs2147280538
NM_001034853.2(RPGR):c.356T>C (p.Leu119Ser)
NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu) rs2147280505
NM_001034853.2(RPGR):c.38C>T (p.Ala13Val)
NM_001034853.2(RPGR):c.392A>G (p.His131Arg)
NM_001034853.2(RPGR):c.397A>T (p.Ile133Phe)
NM_001034853.2(RPGR):c.408T>A (p.Phe136Leu)
NM_001034853.2(RPGR):c.41T>A (p.Val14Glu)
NM_001034853.2(RPGR):c.436T>C (p.Ser146Pro) rs2147280274
NM_001034853.2(RPGR):c.439G>A (p.Ala147Thr)
NM_001034853.2(RPGR):c.452C>T (p.Thr151Ile) rs1060501180
NM_001034853.2(RPGR):c.454T>C (p.Ser152Pro)
NM_001034853.2(RPGR):c.466A>G (p.Thr156Ala)
NM_001034853.2(RPGR):c.467C>A (p.Thr156Asn) rs751512713
NM_001034853.2(RPGR):c.469+4A>G
NM_001034853.2(RPGR):c.488T>A (p.Met163Lys)
NM_001034853.2(RPGR):c.490T>G (p.Trp164Gly)
NM_001034853.2(RPGR):c.503C>A (p.Ser168Tyr)
NM_001034853.2(RPGR):c.561_562insTTG (p.Thr187_Ile188insLeu)
NM_001034853.2(RPGR):c.562A>G (p.Ile188Val)
NM_001034853.2(RPGR):c.587C>G (p.Ser196Cys)
NM_001034853.2(RPGR):c.607G>C (p.Ala203Pro)
NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg)
NM_001034853.2(RPGR):c.619+5G>A rs62638649
NM_001034853.2(RPGR):c.619+5G>C
NM_001034853.2(RPGR):c.620-4A>G
NM_001034853.2(RPGR):c.646G>A (p.Glu216Lys)
NM_001034853.2(RPGR):c.673C>T (p.Pro225Ser)
NM_001034853.2(RPGR):c.676A>G (p.Asn226Asp)
NM_001034853.2(RPGR):c.677A>C (p.Asn226Thr)
NM_001034853.2(RPGR):c.677A>G (p.Asn226Ser)
NM_001034853.2(RPGR):c.680A>G (p.Gln227Arg) rs774988145
NM_001034853.2(RPGR):c.68C>A (p.Ala23Asp) rs2147291804
NM_001034853.2(RPGR):c.692A>G (p.Asn231Ser)
NM_001034853.2(RPGR):c.725C>A (p.Pro242Gln)
NM_001034853.2(RPGR):c.725C>T (p.Pro242Leu)
NM_001034853.2(RPGR):c.735G>A (p.Val245=)
NM_001034853.2(RPGR):c.754G>A (p.Gly252Arg)
NM_001034853.2(RPGR):c.779-5T>G rs2067565504
NM_001034853.2(RPGR):c.87A>G (p.Lys29=)
NM_001034853.2(RPGR):c.900T>G (p.Ile300Met)
NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
NM_001034853.2(RPGR):c.964G>A (p.Gly322Ser)
NM_001034853.2(RPGR):c.967C>G (p.Arg323Gly)
NM_001034853.2(RPGR):c.967C>T (p.Arg323Cys)
NM_001034853.2(RPGR):c.971A>G (p.His324Arg)
NM_001034853.2(RPGR):c.972C>G (p.His324Gln)

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