ClinVar Miner

List of variants in gene PCARE studied for Retinitis pigmentosa

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Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP
NM_001029883.3(PCARE):c.*1050C>T rs36112528
NM_001029883.3(PCARE):c.*1065A>G rs17007529
NM_001029883.3(PCARE):c.*1140T>C
NM_001029883.3(PCARE):c.*1145G>A
NM_001029883.3(PCARE):c.*1157G>A rs369999271
NM_001029883.3(PCARE):c.*1199G>C rs74855521
NM_001029883.3(PCARE):c.*1224C>G rs886055916
NM_001029883.3(PCARE):c.*1226A>G rs59633688
NM_001029883.3(PCARE):c.*1259C>T rs558252908
NM_001029883.3(PCARE):c.*1278C>A rs886055915
NM_001029883.3(PCARE):c.*1296T>G rs537457852
NM_001029883.3(PCARE):c.*1371G>A rs57505815
NM_001029883.3(PCARE):c.*1425C>T rs114274497
NM_001029883.3(PCARE):c.*1517G>A rs886055914
NM_001029883.3(PCARE):c.*1525C>T rs149247863
NM_001029883.3(PCARE):c.*1542A>G rs719691
NM_001029883.3(PCARE):c.*1601G>A rs72861029
NM_001029883.3(PCARE):c.*1663C>T rs958584
NM_001029883.3(PCARE):c.*1666C>T
NM_001029883.3(PCARE):c.*1686C>A
NM_001029883.3(PCARE):c.*1703A>G
NM_001029883.3(PCARE):c.*1704A>G rs72788189
NM_001029883.3(PCARE):c.*1714G>A
NM_001029883.3(PCARE):c.*1742G>C
NM_001029883.3(PCARE):c.*1746G>A rs577941529
NM_001029883.3(PCARE):c.*1748C>T
NM_001029883.3(PCARE):c.*1785C>T
NM_001029883.3(PCARE):c.*1798C>T rs115788507
NM_001029883.3(PCARE):c.*1844C>G rs146988491
NM_001029883.3(PCARE):c.*1865G>A rs886055913
NM_001029883.3(PCARE):c.*1912T>A rs72861027
NM_001029883.3(PCARE):c.*1930C>T
NM_001029883.3(PCARE):c.*1933G>C
NM_001029883.3(PCARE):c.*1969G>A
NM_001029883.3(PCARE):c.*2022G>A rs4464231
NM_001029883.3(PCARE):c.*204G>T
NM_001029883.3(PCARE):c.*2066A>G
NM_001029883.3(PCARE):c.*2104T>C rs1562391
NM_001029883.3(PCARE):c.*2160G>A rs1562392
NM_001029883.3(PCARE):c.*2207C>T
NM_001029883.3(PCARE):c.*2209G>A rs77448535
NM_001029883.3(PCARE):c.*2279G>A rs1562393
NM_001029883.3(PCARE):c.*227T>C rs536483762
NM_001029883.3(PCARE):c.*2293G>C rs1562394
NM_001029883.3(PCARE):c.*2300C>T rs115478100
NM_001029883.3(PCARE):c.*2383G>A
NM_001029883.3(PCARE):c.*2441C>A
NM_001029883.3(PCARE):c.*2442G>A rs543543846
NM_001029883.3(PCARE):c.*2481G>A rs17692899
NM_001029883.3(PCARE):c.*2512G>A
NM_001029883.3(PCARE):c.*2525G>A rs7607027
NM_001029883.3(PCARE):c.*2546G>A
NM_001029883.3(PCARE):c.*2558C>T rs545805260
NM_001029883.3(PCARE):c.*2562G>C rs188247308
NM_001029883.3(PCARE):c.*2584C>T rs79961309
NM_001029883.3(PCARE):c.*2585A>G rs7570356
NM_001029883.3(PCARE):c.*2595A>G rs780734864
NM_001029883.3(PCARE):c.*2629G>A
NM_001029883.3(PCARE):c.*2649C>T
NM_001029883.3(PCARE):c.*2652T>C
NM_001029883.3(PCARE):c.*2670T>C rs10185075
NM_001029883.3(PCARE):c.*2754A>G rs10187620
NM_001029883.3(PCARE):c.*2763A>G rs886055912
NM_001029883.3(PCARE):c.*27G>A rs10182566
NM_001029883.3(PCARE):c.*283G>A rs189553973
NM_001029883.3(PCARE):c.*286G>T rs78759931
NM_001029883.3(PCARE):c.*2929T>C rs11683284
NM_001029883.3(PCARE):c.*3008G>T
NM_001029883.3(PCARE):c.*3036C>T
NM_001029883.3(PCARE):c.*3037G>A rs569687522
NM_001029883.3(PCARE):c.*3040C>T rs747798677
NM_001029883.3(PCARE):c.*3041A>G
NM_001029883.3(PCARE):c.*3050C>T rs188267834
NM_001029883.3(PCARE):c.*3057C>T rs75634215
NM_001029883.3(PCARE):c.*3063A>G
NM_001029883.3(PCARE):c.*34C>A rs745626992
NM_001029883.3(PCARE):c.*395T>G
NM_001029883.3(PCARE):c.*399C>T rs571534411
NM_001029883.3(PCARE):c.*400G>A
NM_001029883.3(PCARE):c.*412C>T
NM_001029883.3(PCARE):c.*413G>A
NM_001029883.3(PCARE):c.*474T>C
NM_001029883.3(PCARE):c.*506T>C rs10194257
NM_001029883.3(PCARE):c.*508A>G rs10196859
NM_001029883.3(PCARE):c.*543C>T rs10495767
NM_001029883.3(PCARE):c.*599G>A rs886055918
NM_001029883.3(PCARE):c.*658G>C rs143745034
NM_001029883.3(PCARE):c.*686A>T rs116550481
NM_001029883.3(PCARE):c.*778A>T
NM_001029883.3(PCARE):c.*830C>A rs13016696
NM_001029883.3(PCARE):c.*857C>T rs538810981
NM_001029883.3(PCARE):c.*874G>A rs886055917
NM_001029883.3(PCARE):c.*903A>G rs146133810
NM_001029883.3(PCARE):c.*929G>A
NM_001029883.3(PCARE):c.*953G>A
NM_001029883.3(PCARE):c.*982C>T rs76693332
NM_001029883.3(PCARE):c.*983G>A rs74315958
NM_001029883.3(PCARE):c.*988C>G rs563291434
NM_001029883.3(PCARE):c.*997G>A
NM_001029883.3(PCARE):c.1024G>A (p.Gly342Ser) rs748520550
NM_001029883.3(PCARE):c.102C>T (p.Gly34=) rs149915190
NM_001029883.3(PCARE):c.103G>A (p.Gly35Arg)
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908
NM_001029883.3(PCARE):c.1229del (p.Gln410fs)
NM_001029883.3(PCARE):c.1262A>G (p.Lys421Arg) rs17007544
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr) rs377498611
NM_001029883.3(PCARE):c.1387G>T (p.Val463Phe) rs199764925
NM_001029883.3(PCARE):c.1432G>A (p.Ala478Thr)
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) rs13385188
NM_001029883.3(PCARE):c.1471G>A (p.Glu491Lys) rs528670230
NM_001029883.3(PCARE):c.1500G>A (p.Met500Ile) rs886055924
NM_001029883.3(PCARE):c.1545A>G (p.Gln515=)
NM_001029883.3(PCARE):c.1582C>A (p.Arg528Ser) rs80151896
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896
NM_001029883.3(PCARE):c.1604T>C (p.Leu535Pro) rs886055923
NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys) rs200809211
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913
NM_001029883.3(PCARE):c.1740G>A (p.Thr580=) rs546110503
NM_001029883.3(PCARE):c.1762C>T (p.Pro588Ser) rs886055922
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met)
NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp) rs151202941
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870
NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) rs571059484
NM_001029883.3(PCARE):c.1892C>T (p.Ala631Val)
NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr) rs75276619
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693
NM_001029883.3(PCARE):c.2126del (p.Gly709fs) rs527236055
NM_001029883.3(PCARE):c.2175T>A (p.Cys725Ter) rs1187627005
NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln)
NM_001029883.3(PCARE):c.21C>A (p.His7Gln)
NM_001029883.3(PCARE):c.2243G>C (p.Gly748Ala)
NM_001029883.3(PCARE):c.2257G>A (p.Ala753Thr) rs371979312
NM_001029883.3(PCARE):c.2287A>G (p.Ile763Val) rs886055921
NM_001029883.3(PCARE):c.2369A>C (p.Glu790Ala)
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259
NM_001029883.3(PCARE):c.2424G>A (p.Leu808=)
NM_001029883.3(PCARE):c.2459_2460insA (p.Ser820fs)
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433
NM_001029883.3(PCARE):c.2502T>C (p.Pro834=) rs184644658
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro) rs370203821
NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln)
NM_001029883.3(PCARE):c.258G>A (p.Arg86=) rs62132765
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363
NM_001029883.3(PCARE):c.2617A>G (p.Thr873Ala) rs190462758
NM_001029883.3(PCARE):c.2707C>A (p.Pro903Thr) rs771188017
NM_001029883.3(PCARE):c.2709T>G (p.Pro903=)
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys) rs200817926
NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter)
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) rs184249075
NM_001029883.3(PCARE):c.2874C>T (p.Ile958=)
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) rs144569618
NM_001029883.3(PCARE):c.2898A>C (p.Pro966=)
NM_001029883.3(PCARE):c.293C>T (p.Thr98Ile)
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025
NM_001029883.3(PCARE):c.2951G>A (p.Arg984Gln)
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.2991G>A (p.Thr997=) rs528901190
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963
NM_001029883.3(PCARE):c.3090dup (p.Ser1031fs) rs1558488002
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) rs140790266
NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=) rs794726892
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) rs72861054
NM_001029883.3(PCARE):c.3194C>G (p.Pro1065Arg)
NM_001029883.3(PCARE):c.3254C>T (p.Ser1085Leu)
NM_001029883.3(PCARE):c.3269C>T (p.Ser1090Leu)
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=) rs183536545
NM_001029883.3(PCARE):c.3307A>G (p.Arg1103Gly)
NM_001029883.3(PCARE):c.3356C>T (p.Thr1119Ile)
NM_001029883.3(PCARE):c.3395A>C (p.Glu1132Ala) rs78874550
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) rs188815175
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg) rs182812191
NM_001029883.3(PCARE):c.3529C>T (p.Arg1177Trp) rs201354788
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)
NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His) rs375769419
NM_001029883.3(PCARE):c.3605G>A (p.Arg1202Gln)
NM_001029883.3(PCARE):c.3620C>A (p.Thr1207Asn)
NM_001029883.3(PCARE):c.3626A>G (p.Asp1209Gly) rs572724183
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.3668+14T>C rs72861052
NM_001029883.3(PCARE):c.3669-5G>A rs886055920
NM_001029883.3(PCARE):c.366T>C (p.His122=) rs17007546
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys) rs201781577
NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=) rs191767954
NM_001029883.3(PCARE):c.3712A>C (p.Ser1238Arg)
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001029883.3(PCARE):c.3761C>T (p.Pro1254Leu) rs1975713
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791
NM_001029883.3(PCARE):c.37A>T (p.Ser13Cys) rs10084168
NM_001029883.3(PCARE):c.3816C>A (p.Ile1272=)
NM_001029883.3(PCARE):c.3840G>A (p.Ala1280=) rs115730331
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys)
NM_001029883.3(PCARE):c.459G>A (p.Thr153=) rs372665350
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.60G>A (p.Gln20=) rs35929540
NM_001029883.3(PCARE):c.634C>T (p.Arg212Trp) rs368688827
NM_001029883.3(PCARE):c.645G>A (p.Leu215=) rs374663422
NM_001029883.3(PCARE):c.655G>A (p.Val219Ile)
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537
NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter) rs863223344
NM_001029883.3(PCARE):c.740T>C (p.Val247Ala) rs77828062
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681
NM_001029883.3(PCARE):c.773G>T (p.Arg258Ile) rs116156338
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430
NM_001029883.3(PCARE):c.867C>T (p.Thr289=) rs199729963
NM_001029883.3(PCARE):c.944G>A (p.Arg315Lys)
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys) rs374283240
NM_001029883.3(PCARE):c.99G>A (p.Gln33=) rs146455733

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