ClinVar Miner

List of variants in gene RP1L1 studied for Retinal dystrophy

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.1791C>T (p.Gly597=) rs6996950 0.83140
NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp) rs4840502 0.70110
NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala) rs11783478 0.55174
NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=) rs56382513 0.55050
NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro) rs35602868 0.45034
NM_178857.6(RP1L1):c.5126C>T (p.Ala1709Val) rs13267180 0.42095
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser) rs74990397 0.41802
NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg) rs55642448 0.41338
NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys) rs4354268 0.40064
NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg) rs4841399 0.28031
NM_178857.6(RP1L1):c.665A>C (p.His222Pro) rs4388421 0.17875
NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val) rs11782670 0.12322
NM_178857.6(RP1L1):c.2268C>T (p.Asn756=) rs57819090 0.12251
NM_178857.6(RP1L1):c.4448C>T (p.Ala1483Val) rs62490855 0.12093
NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp) rs62490856 0.11995
NM_178857.6(RP1L1):c.6264G>T (p.Gln2088His) rs11778341 0.11690
NM_178857.6(RP1L1):c.2316G>A (p.Ser772=) rs62490857 0.06776
NM_178857.6(RP1L1):c.6596C>T (p.Pro2199Leu) rs75797924 0.04990
NM_178857.6(RP1L1):c.7004A>G (p.His2335Arg) rs117007660 0.03149
NM_178857.6(RP1L1):c.33G>A (p.Pro11=) rs80059299 0.01638
NM_178857.6(RP1L1):c.547G>A (p.Gly183Ser) rs115126172 0.01518
NM_178857.6(RP1L1):c.501A>G (p.Thr167=) rs79329877 0.01208
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu) rs199642627 0.00215
NM_178857.6(RP1L1):c.4953G>A (p.Ala1651=) rs79563676 0.00207
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499 0.00200
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498 0.00158
NM_178857.6(RP1L1):c.156C>T (p.Ala52=) rs78501382 0.00112
NM_178857.6(RP1L1):c.3514C>A (p.Leu1172Ile) rs143870426 0.00076
NM_178857.6(RP1L1):c.3255C>G (p.Ile1085Met) rs150752593 0.00069
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053 0.00057
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010 0.00049
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys) rs201753844 0.00035
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063 0.00019
NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys) rs201291934 0.00017
NM_178857.6(RP1L1):c.262C>T (p.His88Tyr) rs201171027 0.00015
NM_178857.6(RP1L1):c.289G>C (p.Glu97Gln) rs142083988 0.00014
NM_178857.6(RP1L1):c.4630C>T (p.Arg1544Cys) rs374999818 0.00013
NM_178857.6(RP1L1):c.1555G>A (p.Gly519Ser) rs775657453 0.00010
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 0.00009
NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His) rs201205913 0.00009
NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg) rs767784152 0.00009
NM_178857.6(RP1L1):c.4837C>A (p.Leu1613Met) rs181095314 0.00008
NM_178857.6(RP1L1):c.6174G>A (p.Pro2058=) rs200660179 0.00008
NM_178857.6(RP1L1):c.236G>A (p.Arg79His) rs373251905 0.00007
NM_178857.6(RP1L1):c.2629C>T (p.His877Tyr) rs770403429 0.00006
NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) rs754126350 0.00006
NM_178857.6(RP1L1):c.3053C>A (p.Pro1018His) rs200191362 0.00006
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr) rs117547822 0.00006
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) rs371886218 0.00005
NM_178857.6(RP1L1):c.2441A>G (p.Glu814Gly) rs190447684 0.00005
NM_178857.6(RP1L1):c.3340T>A (p.Ser1114Thr) rs559059729 0.00005
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469 0.00005
NM_178857.6(RP1L1):c.1451del (p.Ser484fs) rs749460193 0.00004
NM_178857.6(RP1L1):c.234G>A (p.Val78=) rs764024269 0.00004
NM_178857.6(RP1L1):c.2465G>A (p.Arg822Gln) rs750002050 0.00004
NM_178857.6(RP1L1):c.1587G>C (p.Glu529Asp) rs750105114 0.00003
NM_178857.6(RP1L1):c.3022C>G (p.Gln1008Glu) rs756996764 0.00003
NM_178857.6(RP1L1):c.3026C>T (p.Ala1009Val) rs751300307 0.00003
NM_178857.6(RP1L1):c.4663C>A (p.Gln1555Lys) rs992073335 0.00003
NM_178857.6(RP1L1):c.569G>A (p.Arg190His) rs760999157 0.00003
NM_178857.6(RP1L1):c.6063del (p.Asp2021fs) rs572305644 0.00003
NM_178857.6(RP1L1):c.940C>T (p.Arg314Cys) rs777582995 0.00003
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_178857.6(RP1L1):c.1763A>G (p.Asp588Gly) rs770348021 0.00002
NM_178857.6(RP1L1):c.4342G>A (p.Glu1448Lys) rs748013679 0.00002
NM_178857.6(RP1L1):c.5966C>T (p.Ala1989Val) rs749665716 0.00002
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.1850G>T (p.Cys617Phe) rs756191544 0.00001
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107 0.00001
NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter) rs763759470 0.00001
NM_178857.6(RP1L1):c.3217C>T (p.Arg1073Trp) rs771785916 0.00001
NM_178857.6(RP1L1):c.325C>T (p.Pro109Ser) rs753986463 0.00001
NM_178857.6(RP1L1):c.6856G>C (p.Asp2286His) rs958889956 0.00001
NM_178857.6(RP1L1):c.69C>T (p.Arg23=) rs544843021 0.00001
NM_178857.6(RP1L1):c.955G>A (p.Gly319Ser) rs766702464 0.00001
NM_178857.6(RP1L1):c.*1A>G
NM_178857.6(RP1L1):c.1025G>A (p.Arg342Lys) rs867536817
NM_178857.6(RP1L1):c.1058G>C (p.Ser353Thr)
NM_178857.6(RP1L1):c.1074T>A (p.Val358=)
NM_178857.6(RP1L1):c.1112G>T (p.Gly371Val)
NM_178857.6(RP1L1):c.1118C>T (p.Pro373Leu)
NM_178857.6(RP1L1):c.1195G>A (p.Gly399Arg)
NM_178857.6(RP1L1):c.1286C>A (p.Ala429Asp)
NM_178857.6(RP1L1):c.1288C>T (p.Gln430Ter)
NM_178857.6(RP1L1):c.1301G>T (p.Cys434Phe)
NM_178857.6(RP1L1):c.1305T>G (p.Ser435Arg)
NM_178857.6(RP1L1):c.1341A>G (p.Arg447=)
NM_178857.6(RP1L1):c.1381C>G (p.Leu461Val)
NM_178857.6(RP1L1):c.1484C>G (p.Ala495Gly)
NM_178857.6(RP1L1):c.1491G>C (p.Gly497=)
NM_178857.6(RP1L1):c.1501G>T (p.Glu501Ter)
NM_178857.6(RP1L1):c.1551A>G (p.Gln517=) rs761588903
NM_178857.6(RP1L1):c.1618G>A (p.Gly540Ser)
NM_178857.6(RP1L1):c.166C>G (p.Arg56Gly)
NM_178857.6(RP1L1):c.1716C>T (p.Gly572=)
NM_178857.6(RP1L1):c.1766T>C (p.Leu589Pro)
NM_178857.6(RP1L1):c.1778C>T (p.Thr593Met)
NM_178857.6(RP1L1):c.1779G>T (p.Thr593=)
NM_178857.6(RP1L1):c.1845T>C (p.Leu615=)
NM_178857.6(RP1L1):c.1857G>C (p.Trp619Cys)
NM_178857.6(RP1L1):c.1863G>A (p.Ser621=)
NM_178857.6(RP1L1):c.1883C>A (p.Pro628His)
NM_178857.6(RP1L1):c.1982C>T (p.Pro661Leu)
NM_178857.6(RP1L1):c.2005C>A (p.His669Asn) rs760824246
NM_178857.6(RP1L1):c.2026A>T (p.Ser676Cys)
NM_178857.6(RP1L1):c.2053_2056del (p.Gln685fs) rs1797868307
NM_178857.6(RP1L1):c.2237C>T (p.Ser746Leu)
NM_178857.6(RP1L1):c.2239G>A (p.Asp747Asn)
NM_178857.6(RP1L1):c.2256C>T (p.Val752=)
NM_178857.6(RP1L1):c.2293G>T (p.Asp765Tyr)
NM_178857.6(RP1L1):c.2326A>G (p.Ile776Val)
NM_178857.6(RP1L1):c.2450C>T (p.Ala817Val)
NM_178857.6(RP1L1):c.2481A>G (p.Ser827=)
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.2564C>A (p.Thr855Asn)
NM_178857.6(RP1L1):c.2567C>T (p.Pro856Leu)
NM_178857.6(RP1L1):c.2588C>A (p.Pro863His)
NM_178857.6(RP1L1):c.2596C>T (p.Arg866Cys)
NM_178857.6(RP1L1):c.25C>T (p.Gln9Ter) rs1486810062
NM_178857.6(RP1L1):c.260T>C (p.Leu87Pro)
NM_178857.6(RP1L1):c.2624G>A (p.Ser875Asn)
NM_178857.6(RP1L1):c.2763G>A (p.Gly921=)
NM_178857.6(RP1L1):c.2869G>T (p.Val957Phe)
NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) rs267607018
NM_178857.6(RP1L1):c.2886C>T (p.Asp962=)
NM_178857.6(RP1L1):c.2887A>C (p.Asn963His)
NM_178857.6(RP1L1):c.2981C>G (p.Pro994Arg)
NM_178857.6(RP1L1):c.3026_3029del (p.Ala1009fs)
NM_178857.6(RP1L1):c.3134G>C (p.Gly1045Ala)
NM_178857.6(RP1L1):c.3144A>G (p.Pro1048=)
NM_178857.6(RP1L1):c.3165T>C (p.Pro1055=)
NM_178857.6(RP1L1):c.3180A>G (p.Ala1060=)
NM_178857.6(RP1L1):c.3218G>A (p.Arg1073Gln)
NM_178857.6(RP1L1):c.3232C>T (p.Arg1078Trp)
NM_178857.6(RP1L1):c.3261G>A (p.Arg1087=)
NM_178857.6(RP1L1):c.3287G>A (p.Arg1096Gln)
NM_178857.6(RP1L1):c.32C>G (p.Pro11Arg) rs199642627
NM_178857.6(RP1L1):c.330dup (p.Lys111fs) rs770312128
NM_178857.6(RP1L1):c.331A>G (p.Lys111Glu)
NM_178857.6(RP1L1):c.332del (p.Lys111fs) rs1798088088
NM_178857.6(RP1L1):c.3347G>A (p.Gly1116Glu)
NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs) rs766948560
NM_178857.6(RP1L1):c.3417G>A (p.Val1139=)
NM_178857.6(RP1L1):c.3433C>A (p.Pro1145Thr)
NM_178857.6(RP1L1):c.3570G>A (p.Thr1190=)
NM_178857.6(RP1L1):c.3582G>A (p.Thr1194=)
NM_178857.6(RP1L1):c.3592T>G (p.Ser1198Ala) rs1797825629
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.3599G>A (p.Gly1200Asp) rs964723839
NM_178857.6(RP1L1):c.3642C>A (p.Ser1214Arg) rs367745657
NM_178857.6(RP1L1):c.3652G>A (p.Ala1218Thr)
NM_178857.6(RP1L1):c.3695T>G (p.Leu1232Arg) rs1797822746
NM_178857.6(RP1L1):c.3739C>T (p.Pro1247Ser)
NM_178857.6(RP1L1):c.3922G>T (p.Glu1308Ter)
NM_178857.6(RP1L1):c.3961C>T (p.Gln1321Ter)
NM_178857.6(RP1L1):c.3974C>A (p.Thr1325Asn)
NM_178857.6(RP1L1):c.397G>T (p.Glu133Ter)
NM_178857.6(RP1L1):c.3980C>A (p.Thr1327Lys) rs143544262
NM_178857.6(RP1L1):c.3G>A (p.Met1Ile)
NM_178857.6(RP1L1):c.4004G>C (p.Gly1335Ala)
NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter) rs2117226120
NM_178857.6(RP1L1):c.412G>A (p.Ala138Thr)
NM_178857.6(RP1L1):c.4150G>C (p.Gly1384Arg)
NM_178857.6(RP1L1):c.4168C>T (p.Leu1390Phe)
NM_178857.6(RP1L1):c.416dup (p.Gly140fs) rs201192645
NM_178857.6(RP1L1):c.4208G>A (p.Gly1403Glu)
NM_178857.6(RP1L1):c.4213G>A (p.Val1405Ile)
NM_178857.6(RP1L1):c.4247C>T (p.Pro1416Leu)
NM_178857.6(RP1L1):c.424TCC[4] (p.Ser144dup) rs771757943
NM_178857.6(RP1L1):c.4263C>T (p.Ser1421=)
NM_178857.6(RP1L1):c.4407T>C (p.Ser1469=)
NM_178857.6(RP1L1):c.4440G>T (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.4483C>T (p.Pro1495Ser)
NM_178857.6(RP1L1):c.4515G>A (p.Ser1505=)
NM_178857.6(RP1L1):c.451C>T (p.Pro151Ser)
NM_178857.6(RP1L1):c.4560C>T (p.Ser1520=)
NM_178857.6(RP1L1):c.4565T>A (p.Leu1522Ter)
NM_178857.6(RP1L1):c.4650T>G (p.Asn1550Lys)
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.4699C>T (p.Arg1567Cys)
NM_178857.6(RP1L1):c.4769C>T (p.Pro1590Leu)
NM_178857.6(RP1L1):c.4774A>G (p.Arg1592Gly)
NM_178857.6(RP1L1):c.4800C>G (p.Leu1600=)
NM_178857.6(RP1L1):c.4825C>T (p.Arg1609Cys)
NM_178857.6(RP1L1):c.4835G>T (p.Gly1612Val)
NM_178857.6(RP1L1):c.4986C>T (p.Cys1662=)
NM_178857.6(RP1L1):c.5016C>G (p.Pro1672=)
NM_178857.6(RP1L1):c.5016C>T (p.Pro1672=)
NM_178857.6(RP1L1):c.501A>T (p.Thr167=)
NM_178857.6(RP1L1):c.5035A>G (p.Thr1679Ala)
NM_178857.6(RP1L1):c.5044C>T (p.Pro1682Ser)
NM_178857.6(RP1L1):c.5079G>A (p.Leu1693=)
NM_178857.6(RP1L1):c.5145G>A (p.Thr1715=)
NM_178857.6(RP1L1):c.5154G>C (p.Thr1718=)
NM_178857.6(RP1L1):c.5160T>C (p.Thr1720=)
NM_178857.6(RP1L1):c.5280C>T (p.Leu1760=)
NM_178857.6(RP1L1):c.5284del (p.Glu1762fs)
NM_178857.6(RP1L1):c.5314A>G (p.Arg1772Gly)
NM_178857.6(RP1L1):c.5329C>T (p.His1777Tyr)
NM_178857.6(RP1L1):c.5401G>T (p.Gly1801Ter)
NM_178857.6(RP1L1):c.5438A>G (p.Asn1813Ser)
NM_178857.6(RP1L1):c.5584G>A (p.Glu1862Lys)
NM_178857.6(RP1L1):c.5618A>G (p.Asp1873Gly) rs200622636
NM_178857.6(RP1L1):c.5639_5641del (p.Glu1880del)
NM_178857.6(RP1L1):c.5701C>T (p.Pro1901Ser)
NM_178857.6(RP1L1):c.570C>G (p.Arg190=)
NM_178857.6(RP1L1):c.5739G>A (p.Lys1913=)
NM_178857.6(RP1L1):c.5762G>A (p.Ser1921Asn)
NM_178857.6(RP1L1):c.5768A>G (p.Glu1923Gly)
NM_178857.6(RP1L1):c.5771C>A (p.Ala1924Asp) rs774309647
NM_178857.6(RP1L1):c.5802G>A (p.Glu1934=)
NM_178857.6(RP1L1):c.583C>T (p.Gln195Ter)
NM_178857.6(RP1L1):c.5983C>A (p.Pro1995Thr)
NM_178857.6(RP1L1):c.6009A>G (p.Pro2003=)
NM_178857.6(RP1L1):c.6229G>A (p.Glu2077Lys)
NM_178857.6(RP1L1):c.6271G>A (p.Glu2091Lys)
NM_178857.6(RP1L1):c.6312A>G (p.Pro2104=)
NM_178857.6(RP1L1):c.631C>T (p.Leu211=) rs780247256
NM_178857.6(RP1L1):c.6412G>A (p.Glu2138Lys)
NM_178857.6(RP1L1):c.6468G>T (p.Glu2156Asp)
NM_178857.6(RP1L1):c.6548C>A (p.Pro2183Gln)
NM_178857.6(RP1L1):c.6552G>T (p.Glu2184Asp)
NM_178857.6(RP1L1):c.6584G>C (p.Gly2195Ala)
NM_178857.6(RP1L1):c.6618A>G (p.Gln2206=)
NM_178857.6(RP1L1):c.661G>A (p.Gly221Arg)
NM_178857.6(RP1L1):c.6682G>A (p.Val2228Ile)
NM_178857.6(RP1L1):c.6698C>A (p.Ala2233Asp)
NM_178857.6(RP1L1):c.6932A>C (p.Gln2311Pro)
NM_178857.6(RP1L1):c.6979G>C (p.Asp2327His)
NM_178857.6(RP1L1):c.7010A>G (p.Glu2337Gly)
NM_178857.6(RP1L1):c.7132C>T (p.Leu2378Phe)
NM_178857.6(RP1L1):c.7191C>G (p.Asp2397Glu)
NM_178857.6(RP1L1):c.7203G>C (p.Ter2401Tyr) rs143762729
NM_178857.6(RP1L1):c.728G>C (p.Gly243Ala)
NM_178857.6(RP1L1):c.732G>A (p.Leu244=)
NM_178857.6(RP1L1):c.813G>T (p.Thr271=)
NM_178857.6(RP1L1):c.831del (p.Arg277fs) rs1797910388
NM_178857.6(RP1L1):c.94C>T (p.Pro32Ser)
NM_178857.6(RP1L1):c.994G>A (p.Val332Ile)
NM_178857.6(RP1L1):c.995T>C (p.Val332Ala)

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