ClinVar Miner

List of variants in gene RP1L1 reported as uncertain significance for Retinal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053 0.00057
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
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.4630C>T (p.Arg1544Cys) rs374999818 0.00013
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 0.00009
NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg) rs767784152 0.00009
NM_178857.6(RP1L1):c.236G>A (p.Arg79His) rs373251905 0.00007
NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) rs754126350 0.00006
NM_178857.6(RP1L1):c.234G>A (p.Val78=) rs764024269 0.00004
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.4342G>A (p.Glu1448Lys) rs748013679 0.00002
NM_178857.6(RP1L1):c.5966C>T (p.Ala1989Val) rs749665716 0.00002
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.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.1074T>A (p.Val358=)
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.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.1501G>T (p.Glu501Ter)
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.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.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.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.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.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.3592T>G (p.Ser1198Ala) rs1797825629
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.3980C>A (p.Thr1327Lys) rs143544262
NM_178857.6(RP1L1):c.3G>A (p.Met1Ile)
NM_178857.6(RP1L1):c.412G>A (p.Ala138Thr)
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.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.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.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.5584G>A (p.Glu1862Lys)
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.5802G>A (p.Glu1934=)
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.6412G>A (p.Glu2138Lys)
NM_178857.6(RP1L1):c.6468G>T (p.Glu2156Asp)
NM_178857.6(RP1L1):c.6552G>T (p.Glu2184Asp)
NM_178857.6(RP1L1):c.6584G>C (p.Gly2195Ala)
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.94C>T (p.Pro32Ser)

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.