ClinVar Miner

List of variants in gene RP1L1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.130C>G (p.Pro44Ala) rs140397694 0.00956
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617 0.00629
NM_178857.6(RP1L1):c.6545C>A (p.Ala2182Asp) rs183570817 0.00545
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247 0.00385
NM_178857.6(RP1L1):c.1870G>A (p.Ala624Thr) rs141846905 0.00377
NM_178857.6(RP1L1):c.6916T>A (p.Trp2306Arg) rs200403049 0.00377
NM_178857.6(RP1L1):c.1320C>T (p.His440=) rs137914071 0.00348
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.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.3263C>T (p.Ala1088Val) rs200477735 0.00145
NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys) rs201302817 0.00141
NM_178857.6(RP1L1):c.2319G>A (p.Pro773=) rs376509567 0.00130
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 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.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_178857.6(RP1L1):c.1599G>A (p.Ser533=) rs201785951 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.1434C>T (p.Asp478=) rs138367868 0.00075
NM_178857.6(RP1L1):c.5452G>A (p.Ala1818Thr) rs199701906 0.00073
NM_178857.6(RP1L1):c.3027G>A (p.Ala1009=) rs201640796 0.00061
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.3854C>T (p.Ala1285Val) rs201382029 0.00047
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236 0.00041
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
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.4725G>A (p.Glu1575=) rs200941554 0.00025
NM_178857.6(RP1L1):c.6611A>C (p.Glu2204Ala) rs200588941 0.00024
NM_178857.6(RP1L1):c.5793C>T (p.Asp1931=) rs747180512 0.00023
NM_178857.6(RP1L1):c.6902C>G (p.Ser2301Cys) rs199631825 0.00020
NM_178857.6(RP1L1):c.4744C>T (p.Arg1582Trp) rs185345872 0.00019
NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys) rs201291934 0.00017
NM_178857.6(RP1L1):c.4630C>T (p.Arg1544Cys) rs374999818 0.00013
NM_178857.6(RP1L1):c.2849G>A (p.Arg950His) rs201968725 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.2295C>T (p.Asp765=) rs193225741 0.00010
NM_178857.6(RP1L1):c.2456G>C (p.Gly819Ala) rs201576854 0.00010
NM_178857.6(RP1L1):c.2732G>T (p.Ser911Ile) rs757352407 0.00010
NM_178857.6(RP1L1):c.327C>T (p.Pro109=) rs566311667 0.00010
NM_178857.6(RP1L1):c.2850C>T (p.Arg950=) rs542085308 0.00009
NM_178857.6(RP1L1):c.5224G>A (p.Glu1742Lys) rs558895396 0.00009
NM_178857.6(RP1L1):c.6174G>A (p.Pro2058=) rs200660179 0.00008
NM_178857.6(RP1L1):c.274G>A (p.Ala92Thr) rs759671638 0.00007
NM_178857.6(RP1L1):c.1067A>T (p.Asp356Val) rs750107135 0.00006
NM_178857.6(RP1L1):c.1394C>T (p.Ser465Leu) rs772280379 0.00006
NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu) rs536817048 0.00006
NM_178857.6(RP1L1):c.5606C>G (p.Pro1869Arg) rs200473134 0.00006
NM_178857.6(RP1L1):c.1378G>A (p.Gly460Ser) rs369924450 0.00005
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met) rs267601688 0.00005
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469 0.00005
NM_178857.6(RP1L1):c.4486A>C (p.Thr1496Pro) rs759412489 0.00004
NM_178857.6(RP1L1):c.1106G>T (p.Trp369Leu) rs369268494 0.00003
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530 0.00003
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_178857.6(RP1L1):c.1958G>A (p.Ser653Asn) rs761344455 0.00002
NM_178857.6(RP1L1):c.5223C>T (p.Asp1741=) rs372016680 0.00002
NM_178857.6(RP1L1):c.5278C>T (p.Leu1760Phe) rs762713239 0.00002
NM_178857.6(RP1L1):c.751+5G>C rs781255037 0.00002
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.1616C>T (p.Thr539Ile) rs1168570410 0.00001
NM_178857.6(RP1L1):c.1682C>A (p.Ala561Asp) rs1013927022 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.3638G>A (p.Ser1213Asn) rs1240908237 0.00001
NM_178857.6(RP1L1):c.394G>A (p.Val132Ile) rs747870004 0.00001
NM_178857.6(RP1L1):c.6993G>A (p.Thr2331=) rs533478971 0.00001
NM_178857.6(RP1L1):c.1041C>T (p.Ser347=)
NM_178857.6(RP1L1):c.1081G>A (p.Glu361Lys) rs202074432
NM_178857.6(RP1L1):c.1257_1258dup (p.Val420fs) rs764382843
NM_178857.6(RP1L1):c.1294G>A (p.Val432Ile)
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.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.1810G>A (p.Ala604Thr) rs1474979716
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.2129G>A (p.Ser710Asn) rs1554452227
NM_178857.6(RP1L1):c.2325C>A (p.Pro775=) rs1563124477
NM_178857.6(RP1L1):c.2327del (p.Ile776fs) rs1563124470
NM_178857.6(RP1L1):c.2369C>T (p.Ala790Val)
NM_178857.6(RP1L1):c.2379G>T (p.Gly793=)
NM_178857.6(RP1L1):c.2397G>A (p.Thr799=)
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.2585G>T (p.Cys862Phe)
NM_178857.6(RP1L1):c.2754G>A (p.Gly918=)
NM_178857.6(RP1L1):c.2806G>T (p.Gly936Trp)
NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter) rs1563131180
NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) rs267607018
NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter) rs756996764
NM_178857.6(RP1L1):c.3115G>A (p.Gly1039Arg) rs1797838030
NM_178857.6(RP1L1):c.3289C>A (p.Pro1097Thr)
NM_178857.6(RP1L1):c.3303C>G (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.3486C>T (p.Asp1162=)
NM_178857.6(RP1L1):c.3599G>A (p.Gly1200Asp) rs964723839
NM_178857.6(RP1L1):c.36C>A (p.Ser12Arg)
NM_178857.6(RP1L1):c.3779C>G (p.Thr1260Ser) rs186517479
NM_178857.6(RP1L1):c.3855G>A (p.Ala1285=)
NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del) rs746122572
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnLeuGlu)
NM_178857.6(RP1L1):c.4002G>A (p.Glu1334=) rs749598085
NM_178857.6(RP1L1):c.4088GAG[1] (p.Gly1364del) rs886062578
NM_178857.6(RP1L1):c.424TCC[2] (p.Ser144del) rs771757943
NM_178857.6(RP1L1):c.4306T>A (p.Ser1436Thr) rs756335904
NM_178857.6(RP1L1):c.4479C>G (p.Ala1493=)
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.4692G>A (p.Val1564=)
NM_178857.6(RP1L1):c.4769C>A (p.Pro1590His) rs372867998
NM_178857.6(RP1L1):c.4831C>G (p.Arg1611Gly) rs199604262
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>C (p.Gln166His) 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.5610G>A (p.Glu1870=)
NM_178857.6(RP1L1):c.5706G>T (p.Glu1902Asp) rs2117192752
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.594G>A (p.Thr198=) rs778582315
NM_178857.6(RP1L1):c.6046G>T (p.Ala2016Ser)
NM_178857.6(RP1L1):c.6124C>T (p.Gln2042Ter)
NM_178857.6(RP1L1):c.6185_6226del (p.Glu2062_Glu2075del)
NM_178857.6(RP1L1):c.6261C>T (p.Ala2087=)
NM_178857.6(RP1L1):c.6270A>T (p.Ala2090=)
NM_178857.6(RP1L1):c.6286C>T (p.Pro2096Ser) rs374414796
NM_178857.6(RP1L1):c.6404_6499del (p.Pro2135_Ala2166del)
NM_178857.6(RP1L1):c.6427_6453del (p.Pro2143_Gln2151del) rs763500127
NM_178857.6(RP1L1):c.6753G>A (p.Gly2251=)
NM_178857.6(RP1L1):c.6780C>A (p.Gly2260=)
NM_178857.6(RP1L1):c.7143C>A (p.Leu2381=) rs112520779
NM_178857.6(RP1L1):c.777G>A (p.Pro259=)
NM_178857.6(RP1L1):c.900G>A (p.Ser300=)

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