ClinVar Miner

List of variants in gene RP1L1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.3981A>G (p.Thr1327=) rs112656102 0.08193
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500 0.08031
NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys) rs141046710 0.06937
NM_178857.6(RP1L1):c.3979A>G (p.Thr1327Ala) rs139405108 0.05322
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617 0.00629
NM_178857.6(RP1L1):c.420C>A (p.Gly140=) rs79465957 0.00615
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247 0.00385
NM_178857.6(RP1L1):c.1320C>T (p.His440=) rs137914071 0.00348
NM_178857.6(RP1L1):c.4044A>G (p.Gly1348=) rs13253055 0.00337
NM_178857.6(RP1L1):c.6812C>G (p.Pro2271Arg) rs183232880 0.00297
NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys) rs80094376 0.00276
NM_178857.6(RP1L1):c.-165G>A rs550213627 0.00261
NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402 0.00253
NM_178857.6(RP1L1):c.407G>A (p.Arg136His) rs189960401 0.00242
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=) rs202213014 0.00218
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu) rs199642627 0.00215
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499 0.00200
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984 0.00198
NM_178857.6(RP1L1):c.4444G>A (p.Gly1482Arg) rs190000469 0.00195
NM_178857.6(RP1L1):c.6992C>T (p.Thr2331Met) rs147334256 0.00192
NM_178857.6(RP1L1):c.1297C>T (p.Arg433Cys) rs199589914 0.00168
NM_178857.6(RP1L1):c.3125T>A (p.Val1042Asp) rs201692326 0.00167
NM_178857.6(RP1L1):c.1795G>A (p.Glu599Lys) rs150491290 0.00160
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944 0.00158
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498 0.00158
NM_178857.6(RP1L1):c.2319G>A (p.Pro773=) rs376509567 0.00150
NM_178857.6(RP1L1):c.3263C>T (p.Ala1088Val) rs200477735 0.00145
NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys) rs201302817 0.00141
NM_178857.6(RP1L1):c.523A>G (p.Thr175Ala) rs191773730 0.00124
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met) rs146002320 0.00116
NM_178857.6(RP1L1):c.156C>T (p.Ala52=) rs78501382 0.00112
NM_178857.6(RP1L1):c.4323G>A (p.Pro1441=) rs199802369 0.00103
NM_178857.6(RP1L1):c.1599G>A (p.Ser533=) rs201785951 0.00087
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870 0.00087
NM_178857.6(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941 0.00084
NM_178857.6(RP1L1):c.2154C>A (p.Asn718Lys) rs181556707 0.00079
NM_178857.6(RP1L1):c.249A>G (p.Thr83=) rs201392821 0.00067
NM_178857.6(RP1L1):c.1128C>G (p.Phe376Leu) rs372681428 0.00057
NM_178857.6(RP1L1):c.6600G>A (p.Glu2200=) rs192990137 0.00053
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010 0.00049
NM_178857.6(RP1L1):c.3854C>T (p.Ala1285Val) rs201382029 0.00047
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236 0.00041
NM_178857.6(RP1L1):c.2583C>T (p.Pro861=) rs191393277 0.00040
NM_178857.6(RP1L1):c.198C>T (p.Asp66=) rs148800956 0.00034
NM_178857.6(RP1L1):c.6159C>T (p.Asp2053=) rs368139274 0.00034
NM_178857.6(RP1L1):c.906G>A (p.Pro302=) rs368862886 0.00033
NM_178857.6(RP1L1):c.609+2T>C rs199958805 0.00030
NM_178857.6(RP1L1):c.186C>T (p.Ser62=) rs142487521 0.00026
NM_178857.6(RP1L1):c.352C>T (p.Arg118Trp) rs200121539 0.00024
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=) rs200462441 0.00023
NM_178857.6(RP1L1):c.67C>T (p.Arg23Cys) rs188979626 0.00021
NM_178857.6(RP1L1):c.213C>T (p.Arg71=) rs182267291 0.00019
NM_178857.6(RP1L1):c.675C>T (p.Phe225=) rs886062585 0.00016
NM_178857.6(RP1L1):c.9C>T (p.Ser3=) rs367930443 0.00016
NM_178857.6(RP1L1):c.4630C>T (p.Arg1544Cys) rs374999818 0.00013
NM_178857.6(RP1L1):c.488G>A (p.Arg163His) rs182807255 0.00012
NM_178857.6(RP1L1):c.1605G>A (p.Ser535=) rs200772091 0.00011
NM_178857.6(RP1L1):c.212G>A (p.Arg71His) rs200996822 0.00011
NM_178857.6(RP1L1):c.192C>A (p.Leu64=) rs372270166 0.00010
NM_178857.6(RP1L1):c.327C>T (p.Pro109=) rs566311667 0.00010
NM_178857.6(RP1L1):c.549C>T (p.Gly183=) rs200762007 0.00010
NM_178857.6(RP1L1):c.1509C>T (p.Pro503=) rs371771522 0.00009
NM_178857.6(RP1L1):c.2850C>T (p.Arg950=) rs542085308 0.00009
NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His) rs201205913 0.00009
NM_178857.6(RP1L1):c.389G>A (p.Arg130Gln) rs550562431 0.00008
NM_178857.6(RP1L1):c.6174G>A (p.Pro2058=) rs200660179 0.00008
NM_178857.6(RP1L1):c.117C>G (p.Leu39=) rs751004024 0.00007
NM_178857.6(RP1L1):c.351C>T (p.Gly117=) rs367964647 0.00006
NM_178857.6(RP1L1):c.40C>T (p.Arg14Cys) rs765708710 0.00006
NM_178857.6(RP1L1):c.510C>T (p.Leu170=) rs543697177 0.00006
NM_178857.6(RP1L1):c.1317C>A (p.Gly439=) rs567145237 0.00005
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242 0.00005
NM_178857.6(RP1L1):c.610-14C>T rs372152964 0.00005
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469 0.00005
NM_178857.6(RP1L1):c.234G>A (p.Val78=) rs764024269 0.00004
NM_178857.6(RP1L1):c.253C>T (p.Arg85Trp) rs779469547 0.00004
NM_178857.6(RP1L1):c.378T>C (p.Ala126=) rs751975624 0.00004
NM_178857.6(RP1L1):c.1106G>T (p.Trp369Leu) rs369268494 0.00003
NM_178857.6(RP1L1):c.2807G>A (p.Gly936Glu) rs377549388 0.00003
NM_178857.6(RP1L1):c.3591C>T (p.Ser1197=) rs781007999 0.00003
NM_178857.6(RP1L1):c.396C>T (p.Val132=) rs768709297 0.00003
NM_178857.6(RP1L1):c.428C>T (p.Ser143Phe) rs774003548 0.00003
NM_178857.6(RP1L1):c.546C>T (p.Leu182=) rs368113759 0.00003
NM_178857.6(RP1L1):c.180C>T (p.Thr60=) rs368087618 0.00002
NM_178857.6(RP1L1):c.385T>C (p.Leu129=) rs761054315 0.00002
NM_178857.6(RP1L1):c.39C>T (p.His13=) rs775956678 0.00002
NM_178857.6(RP1L1):c.537C>T (p.Ala179=) rs749646079 0.00002
NM_178857.6(RP1L1):c.917G>C (p.Gly306Ala) rs761314438 0.00002
NM_178857.6(RP1L1):c.138T>C (p.Phe46=) rs772128758 0.00001
NM_178857.6(RP1L1):c.1702G>C (p.Ala568Pro) rs868806061 0.00001
NM_178857.6(RP1L1):c.204C>G (p.Leu68=) rs749247094 0.00001
NM_178857.6(RP1L1):c.2221A>G (p.Thr741Ala) rs1318029684 0.00001
NM_178857.6(RP1L1):c.324G>A (p.Lys108=) rs1157547258 0.00001
NM_178857.6(RP1L1):c.453C>T (p.Pro151=) rs755515543 0.00001
NM_178857.6(RP1L1):c.45G>A (p.Glu15=) rs761396117 0.00001
NM_178857.6(RP1L1):c.522T>C (p.Asn174=) rs201260689 0.00001
NM_178857.6(RP1L1):c.556T>G (p.Ser186Ala) rs201308431 0.00001
NM_178857.6(RP1L1):c.609+16C>T rs1349434115 0.00001
NM_178857.6(RP1L1):c.610-16C>T rs771490489 0.00001
NM_178857.6(RP1L1):c.610-18C>T rs368774529 0.00001
NM_178857.6(RP1L1):c.69C>T (p.Arg23=) rs544843021 0.00001
NM_178857.6(RP1L1):c.72C>T (p.Thr24=) rs760022316 0.00001
NM_178857.6(RP1L1):c.75C>G (p.Pro25=) rs773932368 0.00001
NM_178857.6(RP1L1):c.1081G>A (p.Glu361Lys) rs202074432
NM_178857.6(RP1L1):c.1363C>A (p.Pro455Thr)
NM_178857.6(RP1L1):c.1387G>A (p.Glu463Lys)
NM_178857.6(RP1L1):c.1539C>T (p.Gly513=)
NM_178857.6(RP1L1):c.159T>C (p.Val53=)
NM_178857.6(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.168C>T (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.1806G>C (p.Thr602=) rs374308509
NM_178857.6(RP1L1):c.189C>T (p.Ala63=) rs746223147
NM_178857.6(RP1L1):c.2061G>C (p.Pro687=) rs200963001
NM_178857.6(RP1L1):c.2068C>G (p.Pro690Ala) rs1036667471
NM_178857.6(RP1L1):c.216G>A (p.Val72=)
NM_178857.6(RP1L1):c.231G>A (p.Gly77=)
NM_178857.6(RP1L1):c.2379G>T (p.Gly793=)
NM_178857.6(RP1L1):c.2397G>A (p.Thr799=)
NM_178857.6(RP1L1):c.246C>T (p.Thr82=) rs747378535
NM_178857.6(RP1L1):c.24C>G (p.Ala8=) rs374965485
NM_178857.6(RP1L1):c.255G>C (p.Arg85=)
NM_178857.6(RP1L1):c.258C>T (p.Gly86=)
NM_178857.6(RP1L1):c.2754G>A (p.Gly918=)
NM_178857.6(RP1L1):c.303C>T (p.Cys101=) rs756926025
NM_178857.6(RP1L1):c.3303C>G (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.330C>G (p.Pro110=)
NM_178857.6(RP1L1):c.330C>T (p.Pro110=)
NM_178857.6(RP1L1):c.333G>A (p.Lys111=)
NM_178857.6(RP1L1):c.336C>A (p.Thr112=)
NM_178857.6(RP1L1):c.3486C>T (p.Asp1162=)
NM_178857.6(RP1L1):c.348A>T (p.Pro116=)
NM_178857.6(RP1L1):c.354G>A (p.Arg118=) rs753937136
NM_178857.6(RP1L1):c.36C>A (p.Ser12Arg)
NM_178857.6(RP1L1):c.3779C>G (p.Thr1260Ser) rs186517479
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnLeuGlu)
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.3978_3979insGAA (p.Lys1326_Thr1327insGlu) rs146656804
NM_178857.6(RP1L1):c.3980C>T (p.Thr1327Ile) rs143544262
NM_178857.6(RP1L1):c.3983A>T (p.Glu1328Val) rs141205444
NM_178857.6(RP1L1):c.3983_3984insGGGGACTAAAGTAAT (p.Glu1328_Glu1329insGlyThrLysValIle) rs760634189
NM_178857.6(RP1L1):c.4002G>A (p.Glu1334=) rs749598085
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_178857.6(RP1L1):c.420C>T (p.Gly140=) rs79465957
NM_178857.6(RP1L1):c.423C>G (p.Thr141=)
NM_178857.6(RP1L1):c.426C>T (p.Ser142=)
NM_178857.6(RP1L1):c.429C>G (p.Ser143=) rs377067278
NM_178857.6(RP1L1):c.429C>T (p.Ser143=)
NM_178857.6(RP1L1):c.4306T>A (p.Ser1436Thr) rs756335904
NM_178857.6(RP1L1):c.435G>A (p.Arg145=)
NM_178857.6(RP1L1):c.4479C>G (p.Ala1493=)
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.4692G>A (p.Val1564=)
NM_178857.6(RP1L1):c.4851G>C (p.Ser1617=) rs527539772
NM_178857.6(RP1L1):c.487C>T (p.Arg163Cys)
NM_178857.6(RP1L1):c.489C>A (p.Arg163=) rs201167741
NM_178857.6(RP1L1):c.489C>T (p.Arg163=)
NM_178857.6(RP1L1):c.4905C>T (p.Asp1635=) rs200540100
NM_178857.6(RP1L1):c.498G>A (p.Gln166=) rs1554454548
NM_178857.6(RP1L1):c.5124G>A (p.Val1708=)
NM_178857.6(RP1L1):c.5185G>A (p.Gly1729Arg)
NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.6(RP1L1):c.537C>G (p.Ala179=)
NM_178857.6(RP1L1):c.5610G>A (p.Glu1870=)
NM_178857.6(RP1L1):c.564C>A (p.Leu188=)
NM_178857.6(RP1L1):c.591C>T (p.Tyr197=) rs781768770
NM_178857.6(RP1L1):c.594G>A (p.Thr198=) rs778582315
NM_178857.6(RP1L1):c.600C>T (p.Ser200=) rs374460999
NM_178857.6(RP1L1):c.6046G>T (p.Ala2016Ser)
NM_178857.6(RP1L1):c.609+13G>A
NM_178857.6(RP1L1):c.609+18G>C
NM_178857.6(RP1L1):c.609+20C>T
NM_178857.6(RP1L1):c.60T>G (p.Ser20=)
NM_178857.6(RP1L1):c.610-17G>T
NM_178857.6(RP1L1):c.610-19C>G rs1797970326
NM_178857.6(RP1L1):c.612G>A (p.Val204=)
NM_178857.6(RP1L1):c.618G>A (p.Ser206=) rs779020216
NM_178857.6(RP1L1):c.618G>T (p.Ser206=) rs779020216
NM_178857.6(RP1L1):c.619C>T (p.Leu207=) rs1425727509
NM_178857.6(RP1L1):c.6261C>T (p.Ala2087=)
NM_178857.6(RP1L1):c.6270A>T (p.Ala2090=)
NM_178857.6(RP1L1):c.631C>T (p.Leu211=) rs780247256
NM_178857.6(RP1L1):c.633G>A (p.Leu211=)
NM_178857.6(RP1L1):c.660C>T (p.Ala220=)
NM_178857.6(RP1L1):c.672C>T (p.Ala224=)
NM_178857.6(RP1L1):c.6753G>A (p.Gly2251=)
NM_178857.6(RP1L1):c.681C>G (p.Thr227=) rs758897868
NM_178857.6(RP1L1):c.681C>T (p.Thr227=) rs758897868
NM_178857.6(RP1L1):c.708C>T (p.Ser236=)
NM_178857.6(RP1L1):c.7143C>A (p.Leu2381=) rs112520779
NM_178857.6(RP1L1):c.714T>A (p.Ala238=) rs763914928
NM_178857.6(RP1L1):c.730C>T (p.Leu244=)
NM_178857.6(RP1L1):c.751+17G>A
NM_178857.6(RP1L1):c.751+9G>C
NM_178857.6(RP1L1):c.777G>A (p.Pro259=)
NM_178857.6(RP1L1):c.78G>A (p.Ser26=) rs773438295
NM_178857.6(RP1L1):c.78G>T (p.Ser26=)
NM_178857.6(RP1L1):c.81C>T (p.Val27=)
NM_178857.6(RP1L1):c.99C>T (p.Ala33=) rs2117227190

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