ClinVar Miner

List of variants in gene RPGR reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys) rs147388235 0.00850
NM_001034853.2(RPGR):c.2853G>A (p.Glu951=) rs766376194 0.00481
NM_001034853.2(RPGR):c.2499T>G (p.Gly833=) rs752979508 0.00274
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=) rs1446705794 0.00203
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr) rs145289281 0.00087
NM_001034853.2(RPGR):c.2898G>A (p.Gly966=) rs1064797363 0.00073
NM_001034853.2(RPGR):c.2634G>A (p.Gly878=) rs371230592 0.00067
NM_001034853.2(RPGR):c.2895G>A (p.Glu965=) rs762437958 0.00056
NM_001034853.2(RPGR):c.222C>T (p.Ala74=) rs143521661 0.00045
NM_001034853.2(RPGR):c.1414+5C>T rs367627674 0.00039
NM_001034853.2(RPGR):c.2922G>A (p.Gly974=) rs769179127 0.00036
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val) rs147649203 0.00032
NM_001034853.2(RPGR):c.1507-18A>G rs113851995 0.00021
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn) rs113968324 0.00020
NM_001034853.2(RPGR):c.2517A>G (p.Glu839=) rs755138994 0.00016
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile) rs768274240 0.00016
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=) rs138347728 0.00015
NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met) rs202154504 0.00013
NM_001034853.2(RPGR):c.1371G>C (p.Glu457Asp) rs371226433 0.00012
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=) rs145089607 0.00012
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val) rs199661899 0.00010
NM_001034853.2(RPGR):c.36T>G (p.Gly12=) rs769123303 0.00010
NM_000328.3(RPGR):c.2242-6T>C rs771389612 0.00006
NM_001034853.2(RPGR):c.1630A>G (p.Ser544Gly) rs878853953 0.00006
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His) rs762173989 0.00005
NM_001034853.2(RPGR):c.1131C>T (p.Phe377=) rs17852968 0.00005
NM_001034853.2(RPGR):c.1687G>A (p.Val563Met) rs148334278 0.00005
NM_000328.3(RPGR):c.2301G>A (p.Glu767=) rs749909061 0.00004
NM_000328.3(RPGR):c.2445A>G (p.Leu815=) rs771798016 0.00004
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu) rs765979499 0.00004
NM_000328.3(RPGR):c.2133C>T (p.Tyr711=) rs779998371 0.00003
NM_000328.3(RPGR):c.2206A>G (p.Thr736Ala) rs746373784 0.00003
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala) rs769641256 0.00003
NM_001034853.2(RPGR):c.1356G>A (p.Glu452=) rs763638295 0.00003
NM_001034853.2(RPGR):c.155-10C>T rs757403373 0.00003
NM_000328.3(RPGR):c.1935A>G (p.Leu645=) rs781266050 0.00002
NM_001034853.2(RPGR):c.1257A>C (p.Pro419=) rs759743089 0.00002
NM_001034853.2(RPGR):c.1695A>G (p.Gln565=) rs1315296776 0.00002
NM_001034853.2(RPGR):c.470-19C>T rs752337687 0.00002
NM_001034853.2(RPGR):c.603T>C (p.His201=) rs765580620 0.00002
NM_000328.3(RPGR):c.1909C>G (p.His637Asp) rs1386160264 0.00001
NM_000328.3(RPGR):c.2304G>A (p.Pro768=) rs781426804 0.00001
NM_001034853.2(RPGR):c.1059+9A>G rs781086486 0.00001
NM_001034853.2(RPGR):c.1437C>G (p.Thr479=) rs1048927882 0.00001
NM_001034853.2(RPGR):c.1524G>A (p.Leu508=) rs1044418804 0.00001
NM_001034853.2(RPGR):c.1590G>A (p.Gly530=) rs375288851 0.00001
NM_001034853.2(RPGR):c.1754-9G>A rs762495217 0.00001
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly) rs1222240619 0.00001
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg) rs749852225 0.00001
NM_001034853.2(RPGR):c.247+8A>G rs1290611493 0.00001
NM_001034853.2(RPGR):c.248-8A>G rs775563204 0.00001
NM_001034853.2(RPGR):c.619+8A>G rs1230328335 0.00001
NM_001034853.2(RPGR):c.620-16A>G rs1235442896 0.00001
NM_001034853.2(RPGR):c.858C>T (p.Pro286=) rs1387222365 0.00001
NM_001034853.2(RPGR):c.969C>T (p.Arg323=) rs1308025811 0.00001
NM_000328.3(RPGR):c.2052A>G (p.Glu684=)
NM_000328.3(RPGR):c.2076T>A (p.Ala692=)
NM_000328.3(RPGR):c.2091+13A>G
NM_000328.3(RPGR):c.2091+7T>C
NM_000328.3(RPGR):c.2101G>A (p.Ala701Thr)
NM_000328.3(RPGR):c.2116C>T (p.Arg706Trp)
NM_000328.3(RPGR):c.2149+12T>C
NM_000328.3(RPGR):c.2149+19A>G
NM_000328.3(RPGR):c.2150-10C>T
NM_000328.3(RPGR):c.2151A>T (p.Gly717=)
NM_000328.3(RPGR):c.2154C>T (p.Tyr718=)
NM_000328.3(RPGR):c.2172T>C (p.Asp724=)
NM_000328.3(RPGR):c.2241+10A>G
NM_000328.3(RPGR):c.2241+17_2241+18del
NM_000328.3(RPGR):c.2246T>C (p.Phe749Ser)
NM_000328.3(RPGR):c.2259A>G (p.Arg753=)
NM_000328.3(RPGR):c.2265C>T (p.Pro755=)
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733
NM_000328.3(RPGR):c.2286C>G (p.Val762=)
NM_000328.3(RPGR):c.2297A>G (p.Asn766Ser)
NM_000328.3(RPGR):c.2303C>T (p.Pro768Leu)
NM_000328.3(RPGR):c.2325A>C (p.Ile775=)
NM_000328.3(RPGR):c.2355T>C (p.Asn785=)
NM_000328.3(RPGR):c.2394G>A (p.Gln798=)
NM_000328.3(RPGR):c.2439A>G (p.Thr813=)
NM_001034853.2(RPGR):c.1015A>G (p.Ile339Val)
NM_001034853.2(RPGR):c.1032T>C (p.Ser344=)
NM_001034853.2(RPGR):c.1059+13C>T
NM_001034853.2(RPGR):c.1059+17del
NM_001034853.2(RPGR):c.1065T>C (p.Ala355=)
NM_001034853.2(RPGR):c.1080C>T (p.His360=)
NM_001034853.2(RPGR):c.1089T>G (p.Val363=)
NM_001034853.2(RPGR):c.1095T>G (p.Ala365=)
NM_001034853.2(RPGR):c.1105C>G (p.Arg369Gly)
NM_001034853.2(RPGR):c.1106G>A (p.Arg369His)
NM_001034853.2(RPGR):c.1117_1119dup (p.Lys373_Glu374insLys)
NM_001034853.2(RPGR):c.1129T>C (p.Phe377Leu)
NM_001034853.2(RPGR):c.1149T>A (p.Thr383=)
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
NM_001034853.2(RPGR):c.1176G>A (p.Pro392=)
NM_001034853.2(RPGR):c.1191C>T (p.Thr397=)
NM_001034853.2(RPGR):c.1197A>G (p.Gly399=)
NM_001034853.2(RPGR):c.1201G>A (p.Val401Ile)
NM_001034853.2(RPGR):c.1204C>T (p.Leu402=)
NM_001034853.2(RPGR):c.1233G>T (p.Arg411=)
NM_001034853.2(RPGR):c.1245+7T>C
NM_001034853.2(RPGR):c.1246-17A>G
NM_001034853.2(RPGR):c.1251G>A (p.Arg417=)
NM_001034853.2(RPGR):c.1254T>C (p.Ser418=)
NM_001034853.2(RPGR):c.1273A>G (p.Arg425Gly)
NM_001034853.2(RPGR):c.1282C>G (p.Leu428Val)
NM_001034853.2(RPGR):c.1329C>G (p.Pro443=) rs2147227730
NM_001034853.2(RPGR):c.1346G>A (p.Arg449Gln)
NM_001034853.2(RPGR):c.1414+13A>G
NM_001034853.2(RPGR):c.1414+18G>C
NM_001034853.2(RPGR):c.1414+19_1414+22del
NM_001034853.2(RPGR):c.1414+9T>C
NM_001034853.2(RPGR):c.1415-7C>A
NM_001034853.2(RPGR):c.1415-9A>T
NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)
NM_001034853.2(RPGR):c.1497C>A (p.Ile499=)
NM_001034853.2(RPGR):c.1506+16_1506+19del
NM_001034853.2(RPGR):c.1507-17T>A
NM_001034853.2(RPGR):c.1507-9T>C
NM_001034853.2(RPGR):c.154+11C>A
NM_001034853.2(RPGR):c.154+13A>G
NM_001034853.2(RPGR):c.1572+18A>G
NM_001034853.2(RPGR):c.1573-17C>T
NM_001034853.2(RPGR):c.1585A>C (p.Ile529Leu)
NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
NM_001034853.2(RPGR):c.1599G>A (p.Thr533=)
NM_001034853.2(RPGR):c.1607C>T (p.Thr536Ile)
NM_001034853.2(RPGR):c.1616C>T (p.Thr539Ile)
NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
NM_001034853.2(RPGR):c.1653A>G (p.Ser551=)
NM_001034853.2(RPGR):c.1722G>A (p.Thr574=)
NM_001034853.2(RPGR):c.1726A>G (p.Ile576Val)
NM_001034853.2(RPGR):c.1728C>A (p.Ile576=)
NM_001034853.2(RPGR):c.1734A>G (p.Ala578=)
NM_001034853.2(RPGR):c.1746G>A (p.Glu582=)
NM_001034853.2(RPGR):c.1754-10C>T
NM_001034853.2(RPGR):c.1754-13G>C
NM_001034853.2(RPGR):c.1784A>T (p.Asp595Val)
NM_001034853.2(RPGR):c.1803A>G (p.Ile601Met)
NM_001034853.2(RPGR):c.1875C>A (p.Ile625=)
NM_001034853.2(RPGR):c.1918A>G (p.Lys640Glu)
NM_001034853.2(RPGR):c.1921G>C (p.Ala641Pro)
NM_001034853.2(RPGR):c.1974C>T (p.Thr658=)
NM_001034853.2(RPGR):c.2016G>A (p.Glu672=)
NM_001034853.2(RPGR):c.2043G>A (p.Lys681=)
NM_001034853.2(RPGR):c.2055A>G (p.Glu685=)
NM_001034853.2(RPGR):c.2067A>T (p.Pro689=)
NM_001034853.2(RPGR):c.2184G>A (p.Glu728=)
NM_001034853.2(RPGR):c.2220A>G (p.Glu740=)
NM_001034853.2(RPGR):c.2331G>A (p.Lys777=)
NM_001034853.2(RPGR):c.2343G>A (p.Ala781=)
NM_001034853.2(RPGR):c.2385G>C (p.Glu795Asp)
NM_001034853.2(RPGR):c.2415G>C (p.Gly805=)
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2451G>A (p.Gly817=)
NM_001034853.2(RPGR):c.248-20C>T
NM_001034853.2(RPGR):c.2496G>A (p.Glu832=)
NM_001034853.2(RPGR):c.2511G>A (p.Glu837=)
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[3] (p.829EEEEGEG[5]) rs751710678
NM_001034853.2(RPGR):c.2526G>A (p.Gly842=)
NM_001034853.2(RPGR):c.2532GGA[1] (p.Glu846del)
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del) rs760332126
NM_001034853.2(RPGR):c.2541G>A (p.Gly847=) rs750364695
NM_001034853.2(RPGR):c.2547G>A (p.Gly849=)
NM_001034853.2(RPGR):c.2556G>A (p.Glu852=)
NM_001034853.2(RPGR):c.2565A>G (p.Glu855=)
NM_001034853.2(RPGR):c.2580A>G (p.Glu860=)
NM_001034853.2(RPGR):c.2589A>G (p.Glu863=)
NM_001034853.2(RPGR):c.2589_2615del (p.860EEGEEGEGE[1])
NM_001034853.2(RPGR):c.2597AAGGGGAGGAAG[1] (p.866EGEE[1])
NM_001034853.2(RPGR):c.2601G>A (p.Gly867=)
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001034853.2(RPGR):c.2606_2632dup (p.860EEGEEGEGE[3]) rs769216492
NM_001034853.2(RPGR):c.2613G>T (p.Gly871=)
NM_001034853.2(RPGR):c.2616G>A (p.Glu872=)
NM_001034853.2(RPGR):c.2619A>G (p.Glu873=)
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.883GEGEGEEE[3]) rs756520886
NM_001034853.2(RPGR):c.264A>G (p.Lys88=)
NM_001034853.2(RPGR):c.267G>C (p.Val89=) rs2147285733
NM_001034853.2(RPGR):c.2682G>A (p.Glu894=)
NM_001034853.2(RPGR):c.2691G>A (p.Glu897=)
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del) rs745428229
NM_001034853.2(RPGR):c.2712A>G (p.Gly904=)
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del) rs751721873
NM_001034853.2(RPGR):c.2751A>G (p.Gly917=)
NM_001034853.2(RPGR):c.2820A>G (p.Glu940=)
NM_001034853.2(RPGR):c.2841G>A (p.Glu947=)
NM_001034853.2(RPGR):c.2856A>G (p.Glu952=)
NM_001034853.2(RPGR):c.2871G>A (p.Gly957=)
NM_001034853.2(RPGR):c.29-17C>A
NM_001034853.2(RPGR):c.2904G>A (p.Glu968=)
NM_001034853.2(RPGR):c.2919A>G (p.Glu973=)
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3]) rs772859148
NM_001034853.2(RPGR):c.2937G>C (p.Gly979=)
NM_001034853.2(RPGR):c.2940G>A (p.Glu980=)
NM_001034853.2(RPGR):c.2946A>G (p.Glu982=)
NM_001034853.2(RPGR):c.294C>T (p.His98=)
NM_001034853.2(RPGR):c.2976G>A (p.Glu992=)
NM_001034853.2(RPGR):c.2988A>G (p.Glu996=)
NM_001034853.2(RPGR):c.3018G>A (p.Glu1006=)
NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del) rs200955614
NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1]) rs774012136
NM_001034853.2(RPGR):c.311-10C>A
NM_001034853.2(RPGR):c.311-20G>A
NM_001034853.2(RPGR):c.311-6G>A
NM_001034853.2(RPGR):c.311-7T>C
NM_001034853.2(RPGR):c.3114_3122del (p.Gly1039_Glu1041del)
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del) rs748582313
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001034853.2(RPGR):c.3204G>A (p.Lys1068=)
NM_001034853.2(RPGR):c.320A>G (p.Asn107Ser)
NM_001034853.2(RPGR):c.3291T>C (p.Tyr1097=)
NM_001034853.2(RPGR):c.3317A>G (p.Lys1106Arg)
NM_001034853.2(RPGR):c.3384A>C (p.Arg1128=)
NM_001034853.2(RPGR):c.3405A>T (p.Ser1135=)
NM_001034853.2(RPGR):c.3451T>C (p.Leu1151=)
NM_001034853.2(RPGR):c.360G>A (p.Gly120=)
NM_001034853.2(RPGR):c.39T>C (p.Ala13=)
NM_001034853.2(RPGR):c.414C>G (p.Ser138=)
NM_001034853.2(RPGR):c.417G>A (p.Glu139=)
NM_001034853.2(RPGR):c.42G>C (p.Val14=)
NM_001034853.2(RPGR):c.453T>G (p.Thr151=)
NM_001034853.2(RPGR):c.469+13del
NM_001034853.2(RPGR):c.469+18T>C
NM_001034853.2(RPGR):c.504C>T (p.Ser168=)
NM_001034853.2(RPGR):c.528T>C (p.Asn176=)
NM_001034853.2(RPGR):c.529G>A (p.Val177Ile)
NM_001034853.2(RPGR):c.619+11T>C
NM_001034853.2(RPGR):c.619+18G>A rs368570763
NM_001034853.2(RPGR):c.620-17T>C
NM_001034853.2(RPGR):c.620-5A>G
NM_001034853.2(RPGR):c.620-6C>T
NM_001034853.2(RPGR):c.633A>G (p.Leu211=)
NM_001034853.2(RPGR):c.690C>A (p.Gly230=)
NM_001034853.2(RPGR):c.726G>A (p.Pro242=)
NM_001034853.2(RPGR):c.750T>C (p.Cys250=)
NM_001034853.2(RPGR):c.774C>T (p.Leu258=)
NM_001034853.2(RPGR):c.778+11A>G
NM_001034853.2(RPGR):c.778+16A>G
NM_001034853.2(RPGR):c.778+7G>A
NM_001034853.2(RPGR):c.779-16G>T
NM_001034853.2(RPGR):c.779-7C>G
NM_001034853.2(RPGR):c.843T>C (p.Phe281=)
NM_001034853.2(RPGR):c.872A>G (p.Asn291Ser)
NM_001034853.2(RPGR):c.918C>T (p.His306=)
NM_001034853.2(RPGR):c.934+11G>A
NM_001034853.2(RPGR):c.934+7A>G
NM_001034853.2(RPGR):c.939C>T (p.Ile313=)
NM_001034853.2(RPGR):c.942C>T (p.Gly314=)
NM_001034853.2(RPGR):c.972C>T (p.His324=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.