ClinVar Miner

List of variants in gene PCARE studied for Retinitis pigmentosa

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.*2585A>G rs7570356 0.98340
NM_001029883.3(PCARE):c.*2929T>C rs11683284 0.93001
NM_001029883.3(PCARE):c.*2670T>C rs10185075 0.84450
NM_001029883.3(PCARE):c.*2754A>G rs10187620 0.55841
NM_001029883.3(PCARE):c.*1542A>G rs719691 0.55697
NM_001029883.3(PCARE):c.*2104T>C rs1562391 0.54027
NM_001029883.3(PCARE):c.*2160G>A rs1562392 0.53975
NM_001029883.3(PCARE):c.*2022G>A rs4464231 0.53604
NM_001029883.3(PCARE):c.*1663C>T rs958584 0.51823
NM_001029883.3(PCARE):c.*2525G>A rs7607027 0.48359
NM_001029883.3(PCARE):c.*506T>C rs10194257 0.33732
NM_001029883.3(PCARE):c.*1065A>G rs17007529 0.31909
NM_001029883.3(PCARE):c.*1226A>G rs59633688 0.31897
NM_001029883.3(PCARE):c.*508A>G rs10196859 0.30812
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693 0.30236
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) rs13385188 0.29962
NM_001029883.3(PCARE):c.*830C>A rs13016696 0.29075
NM_001029883.3(PCARE):c.*27G>A rs10182566 0.28227
NM_001029883.3(PCARE):c.*2279G>A rs1562393 0.19995
NM_001029883.3(PCARE):c.*1371G>A rs57505815 0.16892
NM_001029883.3(PCARE):c.*543C>T rs10495767 0.16301
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913 0.16186
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093 0.15871
NM_001029883.3(PCARE):c.60G>A (p.Gln20=) rs35929540 0.15707
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433 0.15556
NM_001029883.3(PCARE):c.258G>A (p.Arg86=) rs62132765 0.15123
NM_001029883.3(PCARE):c.*2481G>A rs17692899 0.13366
NM_001029883.3(PCARE):c.3668+14T>C rs72861052 0.06996
NM_001029883.3(PCARE):c.37A>T (p.Ser13Cys) rs10084168 0.05626
NM_001029883.3(PCARE):c.1262A>G (p.Lys421Arg) rs17007544 0.05074
NM_001029883.3(PCARE):c.*3057C>T rs75634215 0.04854
NM_001029883.3(PCARE):c.*1704A>G rs72788189 0.04109
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537 0.03342
NM_001029883.3(PCARE):c.*1912T>A rs72861027 0.03304
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) rs144569618 0.02252
NM_001029883.3(PCARE):c.*3041A>G rs17007522 0.02184
NM_001029883.3(PCARE):c.*1601G>A rs72861029 0.02029
NM_001029883.3(PCARE):c.*983G>A rs74315958 0.01979
NM_001029883.3(PCARE):c.*2584C>T rs79961309 0.01867
NM_001029883.3(PCARE):c.*2293G>C rs1562394 0.01852
NM_001029883.3(PCARE):c.*2300C>T rs115478100 0.01474
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681 0.01424
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_001029883.3(PCARE):c.*1748C>T rs114193888 0.01296
NM_001029883.3(PCARE):c.*286G>T rs78759931 0.01291
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=) rs183536545 0.01287
NM_001029883.3(PCARE):c.*2209G>A rs77448535 0.01239
NM_001029883.3(PCARE):c.366T>C (p.His122=) rs17007546 0.01047
NM_001029883.3(PCARE):c.*1050C>T rs36112528 0.01034
NM_001029883.3(PCARE):c.3840G>A (p.Ala1280=) rs115730331 0.00993
NM_001029883.3(PCARE):c.*686A>T rs116550481 0.00990
NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr) rs75276619 0.00938
NM_001029883.3(PCARE):c.773G>T (p.Arg258Ile) rs116156338 0.00898
NM_001029883.3(PCARE):c.740T>C (p.Val247Ala) rs77828062 0.00896
NM_001029883.3(PCARE):c.*1742G>C rs138102302 0.00848
NM_001029883.3(PCARE):c.*1145G>A rs115327633 0.00846
NM_001029883.3(PCARE):c.*778A>T rs114774220 0.00686
NM_001029883.3(PCARE):c.*1425C>T rs114274497 0.00675
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00651
NM_001029883.3(PCARE):c.*2562G>C rs188247308 0.00625
NM_001029883.3(PCARE):c.3761C>T (p.Pro1254Leu) rs1975713 0.00587
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_001029883.3(PCARE):c.*2649C>T rs74992908 0.00513
NM_001029883.3(PCARE):c.*1969G>A rs143205929 0.00427
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001029883.3(PCARE):c.*1525C>T rs149247863 0.00349
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) rs72861054 0.00315
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) rs188815175 0.00296
NM_001029883.3(PCARE):c.*982C>T rs76693332 0.00293
NM_001029883.3(PCARE):c.*1199G>C rs74855521 0.00288
NM_001029883.3(PCARE):c.3395A>C (p.Glu1132Ala) rs78874550 0.00287
NM_001029883.3(PCARE):c.2617A>G (p.Thr873Ala) rs190462758 0.00281
NM_001029883.3(PCARE):c.*3063A>G rs72861014 0.00280
NM_001029883.3(PCARE):c.*3050C>T rs188267834 0.00264
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363 0.00192
NM_001029883.3(PCARE):c.*3037G>A rs569687522 0.00175
NM_001029883.3(PCARE):c.*1798C>T rs115788507 0.00170
NM_001029883.3(PCARE):c.*399C>T rs571534411 0.00145
NM_001029883.3(PCARE):c.*1930C>T rs151223779 0.00141
NM_001029883.3(PCARE):c.*658G>C rs143745034 0.00140
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259 0.00135
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) rs184249075 0.00126
NM_001029883.3(PCARE):c.2502T>C (p.Pro834=) rs184644658 0.00106
NM_001029883.3(PCARE):c.99G>A (p.Gln33=) rs146455733 0.00106
NM_001029883.3(PCARE):c.*2558C>T rs545805260 0.00103
NM_001029883.3(PCARE):c.*1785C>T rs544366142 0.00102
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) rs140790266 0.00099
NM_001029883.3(PCARE):c.1545A>G (p.Gln515=) rs200427237 0.00093
NM_001029883.3(PCARE):c.2424G>A (p.Leu808=) rs371909714 0.00091
NM_001029883.3(PCARE):c.*2442G>A rs543543846 0.00088
NM_001029883.3(PCARE):c.*1157G>A rs369999271 0.00075
NM_001029883.3(PCARE):c.*2595A>G rs780734864 0.00073
NM_001029883.3(PCARE):c.*1746G>A rs577941529 0.00068
NM_001029883.3(PCARE):c.*283G>A rs189553973 0.00063
NM_001029883.3(PCARE):c.103G>A (p.Gly35Arg) rs187178339 0.00061
NM_001029883.3(PCARE):c.*413G>A rs536100561 0.00060
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896 0.00051
NM_001029883.3(PCARE):c.*2512G>A rs761750223 0.00048
NM_001029883.3(PCARE):c.*2207C>T rs187757111 0.00046
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001029883.3(PCARE):c.102C>T (p.Gly34=) rs149915190 0.00041
NM_001029883.3(PCARE):c.*988C>G rs563291434 0.00038
NM_001029883.3(PCARE):c.867C>T (p.Thr289=) rs199729963 0.00035
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys) rs200227182 0.00028
NM_001029883.3(PCARE):c.*474T>C rs757874160 0.00023
NM_001029883.3(PCARE):c.*400G>A rs185127491 0.00021
NM_001029883.3(PCARE):c.*903A>G rs146133810 0.00021
NM_001029883.3(PCARE):c.*997G>A rs148591627 0.00021
NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys) rs200809211 0.00021
NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp) rs151202941 0.00020
NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=) rs191767954 0.00019
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567 0.00018
NM_001029883.3(PCARE):c.*1844C>G rs146988491 0.00017
NM_001029883.3(PCARE):c.*1666C>T rs527244201 0.00015
NM_001029883.3(PCARE):c.3529C>T (p.Arg1177Trp) rs201354788 0.00015
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg) rs182812191 0.00013
NM_001029883.3(PCARE):c.*1686C>A rs770762342 0.00011
NM_001029883.3(PCARE):c.*3036C>T rs541824167 0.00011
NM_001029883.3(PCARE):c.2951G>A (p.Arg984Gln) rs367888126 0.00011
NM_001029883.3(PCARE):c.645G>A (p.Leu215=) rs374663422 0.00011
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys) rs374283240 0.00011
NM_001029883.3(PCARE):c.*1865G>A rs886055913 0.00010
NM_001029883.3(PCARE):c.*204G>T rs968642049 0.00010
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758 0.00010
NM_001029883.3(PCARE):c.3194C>G (p.Pro1065Arg) rs201528802 0.00010
NM_001029883.3(PCARE):c.*1714G>A rs1040232674 0.00009
NM_001029883.3(PCARE):c.2369A>C (p.Glu790Ala) rs200963687 0.00009
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys) rs200817926 0.00009
NM_001029883.3(PCARE):c.*1517G>A rs886055914 0.00008
NM_001029883.3(PCARE):c.1432G>A (p.Ala478Thr) rs201444022 0.00008
NM_001029883.3(PCARE):c.634C>T (p.Arg212Trp) rs368688827 0.00008
NM_001029883.3(PCARE):c.*3040C>T rs747798677 0.00006
NM_001029883.3(PCARE):c.*34C>A rs745626992 0.00006
NM_001029883.3(PCARE):c.*857C>T rs538810981 0.00006
NM_001029883.3(PCARE):c.*874G>A rs886055917 0.00006
NM_001029883.3(PCARE):c.1024G>A (p.Gly342Ser) rs748520550 0.00006
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908 0.00006
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met) rs202166083 0.00006
NM_001029883.3(PCARE):c.2898A>C (p.Pro966=) rs187119693 0.00005
NM_001029883.3(PCARE):c.3254C>T (p.Ser1085Leu) rs202213660 0.00005
NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His) rs375769419 0.00005
NM_001029883.3(PCARE):c.3605G>A (p.Arg1202Gln) rs200071634 0.00005
NM_001029883.3(PCARE):c.*1140T>C rs1006234504 0.00004
NM_001029883.3(PCARE):c.*1224C>G rs886055916 0.00004
NM_001029883.3(PCARE):c.*929G>A rs1192177517 0.00004
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr) rs377498611 0.00004
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=) rs189904739 0.00004
NM_001029883.3(PCARE):c.3620C>A (p.Thr1207Asn) rs372010073 0.00004
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys) rs201781577 0.00004
NM_001029883.3(PCARE):c.459G>A (p.Thr153=) rs372665350 0.00004
NM_001029883.3(PCARE):c.*395T>G rs941674134 0.00003
NM_001029883.3(PCARE):c.1740G>A (p.Thr580=) rs546110503 0.00003
NM_001029883.3(PCARE):c.2287A>G (p.Ile763Val) rs886055921 0.00003
NM_001029883.3(PCARE):c.944G>A (p.Arg315Lys) rs756484547 0.00003
NM_001029883.3(PCARE):c.*1259C>T rs558252908 0.00002
NM_001029883.3(PCARE):c.1892C>T (p.Ala631Val) rs369935946 0.00002
NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln) rs746749375 0.00002
NM_001029883.3(PCARE):c.2257G>A (p.Ala753Thr) rs371979312 0.00002
NM_001029883.3(PCARE):c.2991G>A (p.Thr997=) rs528901190 0.00002
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu) rs756152942 0.00002
NM_001029883.3(PCARE):c.3669-5G>A rs886055920 0.00002
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430 0.00002
NM_001029883.3(PCARE):c.*1278C>A rs886055915 0.00001
NM_001029883.3(PCARE):c.*1296T>G rs537457852 0.00001
NM_001029883.3(PCARE):c.*227T>C rs536483762 0.00001
NM_001029883.3(PCARE):c.*2383G>A rs553420408 0.00001
NM_001029883.3(PCARE):c.*2546G>A rs1211787095 0.00001
NM_001029883.3(PCARE):c.*3008G>T rs766320812 0.00001
NM_001029883.3(PCARE):c.*599G>A rs886055918 0.00001
NM_001029883.3(PCARE):c.1500G>A (p.Met500Ile) rs886055924 0.00001
NM_001029883.3(PCARE):c.1604T>C (p.Leu535Pro) rs886055923 0.00001
NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) rs571059484 0.00001
NM_001029883.3(PCARE):c.2175T>A (p.Cys725Ter) rs1187627005 0.00001
NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln) rs541757069 0.00001
NM_001029883.3(PCARE):c.2707C>A (p.Pro903Thr) rs771188017 0.00001
NM_001029883.3(PCARE):c.2874C>T (p.Ile958=) rs748746281 0.00001
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025 0.00001
NM_001029883.3(PCARE):c.3269C>T (p.Ser1090Leu) rs761290140 0.00001
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337 0.00001
NM_001029883.3(PCARE):c.3307A>G (p.Arg1103Gly) rs375443061 0.00001
NM_001029883.3(PCARE):c.3626A>G (p.Asp1209Gly) rs572724183 0.00001
NM_001029883.3(PCARE):c.3816C>A (p.Ile1272=) rs749808562 0.00001
NM_001029883.3(PCARE):c.655G>A (p.Val219Ile) rs1667535059 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001029883.3(PCARE):c.*1703A>G rs1667337424
NM_001029883.3(PCARE):c.*1933G>C rs1667333583
NM_001029883.3(PCARE):c.*2066A>G rs1667329985
NM_001029883.3(PCARE):c.*2441C>A rs551398169
NM_001029883.3(PCARE):c.*2629G>A rs116529628
NM_001029883.3(PCARE):c.*2652T>C rs539485807
NM_001029883.3(PCARE):c.*2763A>G rs886055912
NM_001029883.3(PCARE):c.*412C>T rs531692702
NM_001029883.3(PCARE):c.*953G>A rs1667348222
NM_001029883.3(PCARE):c.1229del (p.Gln410fs) rs1667521303
NM_001029883.3(PCARE):c.1387G>T (p.Val463Phe) rs199764925
NM_001029883.3(PCARE):c.1471G>A (p.Glu491Lys) rs528670230
NM_001029883.3(PCARE):c.1582C>A (p.Arg528Ser) rs80151896
NM_001029883.3(PCARE):c.1762C>T (p.Pro588Ser) rs886055922
NM_001029883.3(PCARE):c.1763dup (p.Pro588_Glu589insTer) rs763206332
NM_001029883.3(PCARE):c.2126del (p.Gly709fs) rs527236055
NM_001029883.3(PCARE):c.21C>A (p.His7Gln) rs746892215
NM_001029883.3(PCARE):c.2243G>C (p.Gly748Ala) rs1381872170
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001029883.3(PCARE):c.2459_2460insA (p.Ser820fs) rs1667491330
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro) rs370203821
NM_001029883.3(PCARE):c.2709T>G (p.Pro903=) rs1258874690
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter) rs1667480949
NM_001029883.3(PCARE):c.293C>T (p.Thr98Ile) rs1667544030
NM_001029883.3(PCARE):c.2965C>A (p.Pro989Thr) rs184281410
NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala) rs184281410
NM_001029883.3(PCARE):c.2985dup (p.Pro996fs) rs1572826522
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs) rs527236056
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3090dup (p.Ser1031fs) rs1558488002
NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=) rs794726892
NM_001029883.3(PCARE):c.3356C>T (p.Thr1119Ile) rs1667463778
NM_001029883.3(PCARE):c.3652C>T (p.Gln1218Ter) rs1558487417
NM_001029883.3(PCARE):c.3658G>A (p.Gly1220Ser) rs554321432
NM_001029883.3(PCARE):c.3712A>C (p.Ser1238Arg) rs1667371060
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe) rs78471512
NM_001029883.3(PCARE):c.537T>C (p.Pro179=) rs201965800
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter) rs863223344
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890

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