ClinVar Miner

List of variants in gene CRB2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 562
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HGVS dbSNP gnomAD frequency
NM_173689.7(CRB2):c.269C>A (p.Thr90Asn) rs2808415 0.99946
NM_173689.7(CRB2):c.2126T>C (p.Val709Ala) rs2488602 0.99940
NM_173689.7(CRB2):c.2905A>G (p.Thr969Ala) rs2488601 0.97669
NM_173689.7(CRB2):c.3634-156T>C rs2797947 0.96212
NM_173689.7(CRB2):c.3389+48A>G rs2488599 0.42611
NM_173689.7(CRB2):c.3634-52G>A rs10760283 0.40679
NM_173689.7(CRB2):c.2523G>A (p.Thr841=) rs61740213 0.39220
NM_173689.7(CRB2):c.434T>C (p.Met145Thr) rs1105223 0.37561
NM_173689.7(CRB2):c.419-198A>G rs1105224 0.37213
NM_173689.7(CRB2):c.754+34G>C rs11790447 0.34153
NM_173689.7(CRB2):c.3633+243C>G rs4838054 0.33643
NM_173689.7(CRB2):c.95-169T>C rs56366974 0.32581
NM_173689.7(CRB2):c.476G>C (p.Gly159Ala) rs1105222 0.32311
NM_173689.7(CRB2):c.3390-170_3390-169insA rs35902524 0.31893
NM_173689.7(CRB2):c.755-100G>A rs10760281 0.30266
NM_173689.7(CRB2):c.754+315G>A rs12552768 0.30032
NM_173689.7(CRB2):c.993C>T (p.Asn331=) rs10818812 0.29309
NM_173689.7(CRB2):c.1055-58T>C rs7034379 0.23171
NM_173689.7(CRB2):c.1587G>A (p.Ala529=) rs33984675 0.22033
NM_173689.7(CRB2):c.2076C>T (p.Ser692=) rs13290763 0.21944
NM_173689.7(CRB2):c.3126G>C (p.Ala1042=) rs2488600 0.21017
NM_173689.7(CRB2):c.3634-199C>T rs4838055 0.17824
NM_173689.7(CRB2):c.3633+54G>A rs4838053 0.17195
NC_000009.12:g.123356133G>A rs10985983 0.15971
NM_173689.7(CRB2):c.2437-224G>T rs12342024 0.14637
NM_173689.7(CRB2):c.2436+181C>T rs13291617 0.12832
NM_173689.7(CRB2):c.3329C>T (p.Thr1110Met) rs73571431 0.12417
NM_173689.7(CRB2):c.3633+224A>G rs67785297 0.12167
NM_173689.7(CRB2):c.3506+111T>A rs2797949 0.10682
NM_173689.7(CRB2):c.3021T>C (p.Ala1007=) rs7848449 0.10131
NM_173689.7(CRB2):c.3507-133C>T rs12378884 0.08881
NM_173689.7(CRB2):c.754+9G>A rs4838052 0.07512
NM_173689.7(CRB2):c.940+55C>G rs2797951 0.07324
NM_173689.7(CRB2):c.61C>T (p.Leu21=) rs12551047 0.05364
NM_173689.7(CRB2):c.755-305C>T rs12552775 0.05268
NM_173689.7(CRB2):c.1920C>T (p.Cys640=) rs55965026 0.03935
NM_173689.7(CRB2):c.3389+263T>C rs114763962 0.03789
NM_173689.7(CRB2):c.1054+177T>C rs116294669 0.03218
NM_173689.7(CRB2):c.418+261T>G rs73571408 0.02660
NM_173689.7(CRB2):c.419-16C>A rs73571416 0.02263
NM_173689.7(CRB2):c.94+287G>C rs73569276 0.02258
NM_173689.7(CRB2):c.755-10_755-7dup rs148932652 0.02250
NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser) rs144714250 0.01838
NM_173689.7(CRB2):c.2436+185C>A rs142485768 0.01656
NM_173689.7(CRB2):c.940+48G>T rs551308049 0.01335
NM_173689.7(CRB2):c.3389+158del rs201354949 0.01310
NM_173689.7(CRB2):c.3507-14C>A rs115981769 0.01081
NM_173689.7(CRB2):c.3634-306C>T rs112445979 0.00923
NM_173689.7(CRB2):c.94+184G>A rs79961016 0.00875
NM_173689.7(CRB2):c.1054+29C>T rs115952111 0.00850
NM_173689.7(CRB2):c.2376G>T (p.Glu792Asp) rs75370841 0.00850
NM_173689.7(CRB2):c.*242C>T rs114750179 0.00824
NM_173689.7(CRB2):c.1054+97G>A rs62579939 0.00803
NM_173689.7(CRB2):c.2130G>A (p.Pro710=) rs34057024 0.00697
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp) rs145286619 0.00688
NM_173689.7(CRB2):c.2709C>T (p.Arg903=) rs116379540 0.00679
NM_173689.7(CRB2):c.137C>T (p.Pro46Leu) rs73571404 0.00665
NM_173689.7(CRB2):c.614+13C>T rs376610848 0.00614
NM_173689.7(CRB2):c.3325C>G (p.His1109Asp) rs185968694 0.00575
NM_173689.7(CRB2):c.278G>A (p.Arg93His) rs138381817 0.00563
NM_173689.7(CRB2):c.205C>T (p.Arg69Trp) rs36035964 0.00556
NM_173689.7(CRB2):c.3506+229C>T rs187641797 0.00550
NM_173689.7(CRB2):c.1055-13G>A rs7021276 0.00538
NM_173689.7(CRB2):c.94+166G>A rs79988079 0.00425
NM_173689.7(CRB2):c.2748C>T (p.Ala916=) rs372726074 0.00422
NM_173689.7(CRB2):c.1927+10A>T rs137881241 0.00414
NM_173689.7(CRB2):c.1428T>G (p.Thr476=) rs142345530 0.00412
NM_173689.7(CRB2):c.3634-63C>T rs79829444 0.00375
NM_173689.7(CRB2):c.5C>T (p.Ala2Val) rs201425854 0.00326
NM_173689.7(CRB2):c.754+121G>A rs113517283 0.00325
NM_173689.7(CRB2):c.940+16G>C rs200215866 0.00307
NM_173689.7(CRB2):c.*197C>T rs116786333 0.00302
NM_173689.7(CRB2):c.754+111C>T rs189535802 0.00285
NM_173689.7(CRB2):c.1236C>T (p.Ile412=) rs55641439 0.00277
NM_173689.7(CRB2):c.2112G>A (p.Arg704=) rs114090190 0.00269
NM_173689.7(CRB2):c.1464G>A (p.Leu488=) rs145392563 0.00244
NM_173689.7(CRB2):c.2817G>C (p.Leu939=) rs148565778 0.00240
NM_173689.7(CRB2):c.270C>T (p.Thr90=) rs140031022 0.00223
NM_173689.7(CRB2):c.468G>A (p.Leu156=) rs146419635 0.00222
NM_173689.7(CRB2):c.755-129T>A rs528705727 0.00199
NM_173689.7(CRB2):c.2789C>T (p.Ala930Val) rs561402183 0.00178
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe) rs35578485 0.00159
NM_173689.7(CRB2):c.2496C>A (p.Thr832=) rs148249926 0.00155
NM_173689.7(CRB2):c.2850C>T (p.Arg950=) rs571344203 0.00153
NM_173689.7(CRB2):c.142G>A (p.Ala48Thr) rs200283870 0.00143
NM_173689.7(CRB2):c.1453G>C (p.Glu485Gln) rs138853172 0.00142
NM_173689.7(CRB2):c.3204C>T (p.Asp1068=) rs377347664 0.00141
NM_173689.7(CRB2):c.3471C>T (p.Ala1157=) rs61745393 0.00130
NM_173689.7(CRB2):c.606G>A (p.Leu202=) rs201174974 0.00130
NM_173689.7(CRB2):c.3738G>C (p.Leu1246=) rs142743710 0.00129
NM_173689.7(CRB2):c.1298C>T (p.Pro433Leu) rs150487212 0.00123
NM_173689.7(CRB2):c.3633+17G>T rs74351477 0.00098
NM_173689.7(CRB2):c.737G>A (p.Arg246His) rs150339335 0.00096
NM_173689.7(CRB2):c.2668G>A (p.Gly890Arg) rs144760112 0.00086
NM_173689.7(CRB2):c.516C>T (p.Cys172=) rs146687164 0.00083
NM_173689.7(CRB2):c.2519C>G (p.Pro840Arg) rs61740212 0.00079
NM_173689.7(CRB2):c.855C>T (p.Tyr285=) rs147047443 0.00073
NM_173689.7(CRB2):c.3678C>T (p.Ala1226=) rs149457987 0.00063
NM_173689.7(CRB2):c.870C>T (p.Ala290=) rs143804347 0.00061
NM_173689.7(CRB2):c.3296A>T (p.His1099Leu) rs748885642 0.00058
NM_173689.7(CRB2):c.418+8C>T rs201651061 0.00056
NM_173689.7(CRB2):c.3015G>A (p.Leu1005=) rs373621441 0.00053
NM_173689.7(CRB2):c.2961C>T (p.Arg987=) rs760240136 0.00051
NM_173689.7(CRB2):c.327C>T (p.Ile109=) rs144843375 0.00051
NM_173689.7(CRB2):c.755-12G>A rs199716560 0.00051
NM_173689.7(CRB2):c.3389+70C>T rs142899383 0.00050
NM_173689.7(CRB2):c.38C>T (p.Ala13Val) rs199695001 0.00046
NM_173689.7(CRB2):c.2547C>T (p.Pro849=) rs201242880 0.00045
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) rs147412276 0.00045
NM_173689.7(CRB2):c.1817G>A (p.Arg606Gln) rs149901147 0.00042
NM_173689.7(CRB2):c.2043C>T (p.Ser681=) rs151243935 0.00041
NM_173689.7(CRB2):c.755-19C>T rs370972340 0.00039
NM_173689.7(CRB2):c.1054+15G>A rs201390312 0.00037
NM_173689.7(CRB2):c.1410C>T (p.Pro470=) rs200850549 0.00037
NM_173689.7(CRB2):c.3634-14C>T rs368619846 0.00035
NM_173689.7(CRB2):c.418+15C>T rs112149810 0.00034
NM_173689.7(CRB2):c.3826C>T (p.Leu1276Phe) rs529201914 0.00031
NM_173689.7(CRB2):c.2821G>A (p.Gly941Ser) rs780391222 0.00029
NM_173689.7(CRB2):c.1627C>T (p.Arg543Trp) rs146158114 0.00027
NM_173689.7(CRB2):c.1429C>T (p.Arg477Cys) rs146271715 0.00024
NM_173689.7(CRB2):c.1062A>T (p.Thr354=) rs191927047 0.00022
NM_173689.7(CRB2):c.310C>T (p.Arg104Cys) rs200091031 0.00022
NM_173689.7(CRB2):c.661G>A (p.Glu221Lys) rs368631180 0.00022
NM_173689.7(CRB2):c.1019A>G (p.Asn340Ser) rs201851098 0.00021
NM_173689.7(CRB2):c.1217C>T (p.Pro406Leu) rs34802652 0.00021
NM_173689.7(CRB2):c.1366G>C (p.Gly456Arg) rs140903037 0.00021
NM_173689.7(CRB2):c.946G>A (p.Asp316Asn) rs201386154 0.00021
NM_173689.7(CRB2):c.1494G>T (p.Trp498Cys) rs144803819 0.00020
NM_173689.7(CRB2):c.3665T>C (p.Leu1222Pro) rs138303512 0.00019
NM_173689.7(CRB2):c.3840G>A (p.Pro1280=) rs139686085 0.00019
NM_173689.7(CRB2):c.1433A>G (p.Asn478Ser) rs575296054 0.00015
NM_173689.7(CRB2):c.3435C>T (p.Leu1145=) rs148933240 0.00015
NM_173689.7(CRB2):c.1724C>A (p.Thr575Asn) rs111594423 0.00014
NM_173689.7(CRB2):c.2263G>A (p.Asp755Asn) rs139042402 0.00014
NM_173689.7(CRB2):c.3466G>A (p.Ala1156Thr) rs201603014 0.00014
NM_173689.7(CRB2):c.2380G>A (p.Gly794Ser) rs148397660 0.00012
NM_173689.7(CRB2):c.1051G>A (p.Ala351Thr) rs199679542 0.00011
NM_173689.7(CRB2):c.243G>C (p.Leu81=) rs377472838 0.00009
NM_173689.7(CRB2):c.2706G>A (p.Thr902=) rs370878889 0.00009
NM_173689.7(CRB2):c.2811T>C (p.His937=) rs1055553654 0.00009
NM_173689.7(CRB2):c.590G>T (p.Gly197Val) rs368194233 0.00009
NM_173689.7(CRB2):c.555C>T (p.Leu185=) rs370476464 0.00008
NM_173689.7(CRB2):c.762C>T (p.Ser254=) rs201665228 0.00008
NM_173689.7(CRB2):c.153C>T (p.Thr51=) rs759815636 0.00007
NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp) rs575676072 0.00007
NM_173689.7(CRB2):c.2856C>T (p.Ala952=) rs547666732 0.00007
NM_173689.7(CRB2):c.765C>T (p.Gly255=) rs138090939 0.00007
NM_173689.7(CRB2):c.1785C>T (p.Leu595=) rs367914359 0.00006
NM_173689.7(CRB2):c.2445_2446del (p.Cys816fs) rs777114603 0.00006
NM_173689.7(CRB2):c.2737G>A (p.Ala913Thr) rs1016336000 0.00006
NM_173689.7(CRB2):c.2846C>G (p.Pro949Arg) rs1190791808 0.00006
NM_173689.7(CRB2):c.3033C>T (p.Thr1011=) rs202133148 0.00006
NM_173689.7(CRB2):c.3163C>T (p.Arg1055Cys) rs760052936 0.00006
NM_173689.7(CRB2):c.3650C>T (p.Pro1217Leu) rs150489375 0.00006
NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys) rs537738396 0.00006
NM_173689.7(CRB2):c.705C>T (p.Asn235=) rs771074871 0.00006
NM_173689.7(CRB2):c.1110C>T (p.Gly370=) rs145948620 0.00005
NM_173689.7(CRB2):c.1917G>A (p.Thr639=) rs764120872 0.00005
NM_173689.7(CRB2):c.2745C>T (p.Gly915=) rs527637248 0.00005
NM_173689.7(CRB2):c.2835C>T (p.Pro945=) rs747237748 0.00005
NM_173689.7(CRB2):c.1246G>A (p.Glu416Lys) rs199630307 0.00004
NM_173689.7(CRB2):c.1299G>A (p.Pro433=) rs150981911 0.00004
NM_173689.7(CRB2):c.1887C>T (p.Cys629=) rs147850317 0.00004
NM_173689.7(CRB2):c.1928A>C (p.Glu643Ala) rs730880300 0.00004
NM_173689.7(CRB2):c.2316C>T (p.Leu772=) rs142240363 0.00004
NM_173689.7(CRB2):c.2416G>A (p.Val806Ile) rs560877883 0.00004
NM_173689.7(CRB2):c.2573C>T (p.Thr858Met) rs375315089 0.00004
NM_173689.7(CRB2):c.2659G>A (p.Ala887Thr) rs554664071 0.00004
NM_173689.7(CRB2):c.3111C>T (p.Ala1037=) rs760985080 0.00004
NM_173689.7(CRB2):c.3144G>A (p.Pro1048=) rs768468707 0.00004
NM_173689.7(CRB2):c.3189G>C (p.Ser1063=) rs758441594 0.00004
NM_173689.7(CRB2):c.3246C>T (p.Cys1082=) rs748881064 0.00004
NM_173689.7(CRB2):c.3331C>T (p.His1111Tyr) rs774472811 0.00004
NM_173689.7(CRB2):c.3448T>C (p.Cys1150Arg) rs202022214 0.00004
NM_173689.7(CRB2):c.3459C>T (p.Gly1153=) rs762741525 0.00004
NM_173689.7(CRB2):c.347C>T (p.Pro116Leu) rs542211566 0.00004
NM_173689.7(CRB2):c.3751C>T (p.Arg1251Cys) rs767416221 0.00004
NM_173689.7(CRB2):c.3816G>A (p.Met1272Ile) rs900941461 0.00004
NM_173689.7(CRB2):c.645C>T (p.Tyr215=) rs753590043 0.00004
NM_173689.7(CRB2):c.85C>T (p.Leu29Phe) rs905815810 0.00004
NM_173689.7(CRB2):c.966C>T (p.Asp322=) rs753016438 0.00004
NM_173689.7(CRB2):c.994G>A (p.Gly332Arg) rs779805981 0.00004
NM_173689.7(CRB2):c.237C>T (p.Gly79=) rs141421447 0.00003
NM_173689.7(CRB2):c.2741C>T (p.Ala914Val) rs1221877694 0.00003
NM_173689.7(CRB2):c.2878C>T (p.Arg960Cys) rs768010757 0.00003
NM_173689.7(CRB2):c.3225C>T (p.Phe1075=) rs889337568 0.00003
NM_173689.7(CRB2):c.3300C>T (p.Ser1100=) rs756726174 0.00003
NM_173689.7(CRB2):c.3613G>A (p.Gly1205Ser) rs779586424 0.00003
NM_173689.7(CRB2):c.941-8T>C rs1483978161 0.00003
NM_173689.7(CRB2):c.1193C>T (p.Thr398Ile) rs767283156 0.00002
NM_173689.7(CRB2):c.1411G>T (p.Ala471Ser) rs779153310 0.00002
NM_173689.7(CRB2):c.1668G>A (p.Thr556=) rs745497263 0.00002
NM_173689.7(CRB2):c.2200G>A (p.Gly734Arg) rs369985658 0.00002
NM_173689.7(CRB2):c.2661G>T (p.Ala887=) rs1055440896 0.00002
NM_173689.7(CRB2):c.2799G>A (p.Val933=) rs370413620 0.00002
NM_173689.7(CRB2):c.2839C>A (p.Pro947Thr) rs901060065 0.00002
NM_173689.7(CRB2):c.3149C>T (p.Pro1050Leu) rs747787854 0.00002
NM_173689.7(CRB2):c.3263G>A (p.Gly1088Asp) rs766470795 0.00002
NM_173689.7(CRB2):c.3291_3292del (p.Cys1098fs) rs1064793849 0.00002
NM_173689.7(CRB2):c.3406A>G (p.Lys1136Glu) rs751088787 0.00002
NM_173689.7(CRB2):c.858G>T (p.Gly286=) rs201342679 0.00002
NM_173689.7(CRB2):c.941-3C>T rs537615209 0.00002
NM_173689.7(CRB2):c.1038C>G (p.Cys346Trp) rs1199981155 0.00001
NM_173689.7(CRB2):c.1108G>A (p.Gly370Ser) rs777423121 0.00001
NM_173689.7(CRB2):c.1154C>T (p.Pro385Leu) rs373818132 0.00001
NM_173689.7(CRB2):c.1171C>T (p.Arg391Cys) rs762973665 0.00001
NM_173689.7(CRB2):c.12C>T (p.Ala4=) rs544949518 0.00001
NM_173689.7(CRB2):c.1404A>G (p.Thr468=) rs778114990 0.00001
NM_173689.7(CRB2):c.152C>A (p.Thr51Asn) rs774678279 0.00001
NM_173689.7(CRB2):c.1707C>G (p.Ala569=) rs1427412054 0.00001
NM_173689.7(CRB2):c.1786G>A (p.Gly596Ser) rs1218300959 0.00001
NM_173689.7(CRB2):c.1814G>A (p.Arg605His) rs750162087 0.00001
NM_173689.7(CRB2):c.1A>G (p.Met1Val) rs1168760769 0.00001
NM_173689.7(CRB2):c.2149C>T (p.Leu717Phe) rs776396868 0.00001
NM_173689.7(CRB2):c.2199C>T (p.Phe733=) rs376689681 0.00001
NM_173689.7(CRB2):c.2277G>A (p.Trp759Ter) rs375072557 0.00001
NM_173689.7(CRB2):c.2417T>A (p.Val806Asp) rs150538209 0.00001
NM_173689.7(CRB2):c.2514G>A (p.Thr838=) rs578075073 0.00001
NM_173689.7(CRB2):c.2522C>T (p.Thr841Met) rs1554784754 0.00001
NM_173689.7(CRB2):c.2610G>A (p.Ala870=) rs1162203262 0.00001
NM_173689.7(CRB2):c.2847G>A (p.Pro949=) rs2042046855 0.00001
NM_173689.7(CRB2):c.2902_2904dup (p.Ala968dup) rs774240995 0.00001
NM_173689.7(CRB2):c.3032C>T (p.Thr1011Ile) rs757377809 0.00001
NM_173689.7(CRB2):c.3219C>G (p.Asp1073Glu) rs1443443959 0.00001
NM_173689.7(CRB2):c.3274G>A (p.Glu1092Lys) rs542637649 0.00001
NM_173689.7(CRB2):c.3369C>T (p.Gly1123=) rs2042061679 0.00001
NM_173689.7(CRB2):c.3453G>A (p.Glu1151=) rs151064006 0.00001
NM_173689.7(CRB2):c.3724C>T (p.Leu1242Phe) rs1419955317 0.00001
NM_173689.7(CRB2):c.419G>A (p.Gly140Asp) rs545989298 0.00001
NM_173689.7(CRB2):c.514T>C (p.Cys172Arg) rs762496290 0.00001
NM_173689.7(CRB2):c.533G>A (p.Gly178Asp) rs1322315181 0.00001
NM_173689.7(CRB2):c.600C>T (p.His200=) rs1375078263 0.00001
NM_173689.7(CRB2):c.682G>A (p.Ala228Thr) rs769223116 0.00001
NM_173689.7(CRB2):c.755-17C>T rs1011941212 0.00001
NM_173689.7(CRB2):c.789C>T (p.Asp263=) rs758566750 0.00001
NM_173689.7(CRB2):c.83C>A (p.Ser28Tyr) rs745391116 0.00001
NM_173689.7(CRB2):c.941-4A>G rs746637476 0.00001
NM_173689.7(CRB2):c.941-7C>T rs1345545989 0.00001
NM_173689.7(CRB2):c.941-8T>A rs1483978161 0.00001
NM_173689.7(CRB2):c.941-9_941-8insG rs2041955281 0.00001
NM_173689.7(CRB2):c.974C>T (p.Ala325Val) rs867898611 0.00001
NC_000009.11:g.(?_126130487)_(126133028_?)del
NC_000009.12:g.123356192G>T rs35454517
NM_173689.7(CRB2):c.*317_*320del rs536922834
NM_173689.7(CRB2):c.-21CAGAGCG[1] rs60364866
NM_173689.7(CRB2):c.102G>C (p.Val34=)
NM_173689.7(CRB2):c.103C>T (p.Pro35Ser) rs763874725
NM_173689.7(CRB2):c.1046G>A (p.Gly349Asp) rs1564372397
NM_173689.7(CRB2):c.1050C>T (p.Tyr350=)
NM_173689.7(CRB2):c.1055-3A>G
NM_173689.7(CRB2):c.1055-7C>T
NM_173689.7(CRB2):c.1059G>A (p.Pro353=)
NM_173689.7(CRB2):c.1092G>A (p.Ser364=)
NM_173689.7(CRB2):c.1107C>T (p.His369=)
NM_173689.7(CRB2):c.1111G>A (p.Gly371Arg)
NM_173689.7(CRB2):c.1112G>A (p.Gly371Glu)
NM_173689.7(CRB2):c.1139A>G (p.Tyr380Cys)
NM_173689.7(CRB2):c.1152C>T (p.Cys384=)
NM_173689.7(CRB2):c.1186C>T (p.Gln396Ter)
NM_173689.7(CRB2):c.1191C>A (p.Leu397=)
NM_173689.7(CRB2):c.1220T>C (p.Leu407Pro)
NM_173689.7(CRB2):c.1266C>T (p.Tyr422=)
NM_173689.7(CRB2):c.1266del (p.Ser421_Tyr422insTer)
NM_173689.7(CRB2):c.1267G>A (p.Val423Ile)
NM_173689.7(CRB2):c.1278C>T (p.Cys426=)
NM_173689.7(CRB2):c.1341C>T (p.Ser447=)
NM_173689.7(CRB2):c.1365T>G (p.Ala455=)
NM_173689.7(CRB2):c.138G>A (p.Pro46=)
NM_173689.7(CRB2):c.1396C>T (p.Arg466Cys)
NM_173689.7(CRB2):c.1399A>G (p.Thr467Ala) rs2132773937
NM_173689.7(CRB2):c.141C>T (p.Cys47=)
NM_173689.7(CRB2):c.1430G>A (p.Arg477His)
NM_173689.7(CRB2):c.1433A>C (p.Asn478Thr) rs575296054
NM_173689.7(CRB2):c.1490T>A (p.Leu497His) rs2132774625
NM_173689.7(CRB2):c.14G>A (p.Arg5Lys) rs2132723482
NM_173689.7(CRB2):c.1506C>T (p.Thr502=)
NM_173689.7(CRB2):c.1529C>T (p.Pro510Leu)
NM_173689.7(CRB2):c.1530G>A (p.Pro510=)
NM_173689.7(CRB2):c.1539C>T (p.Ala513=) rs757677524
NM_173689.7(CRB2):c.1545C>T (p.Asn515=)
NM_173689.7(CRB2):c.1554T>C (p.His518=)
NM_173689.7(CRB2):c.156G>A (p.Glu52=)
NM_173689.7(CRB2):c.1573G>A (p.Val525Met) rs769681092
NM_173689.7(CRB2):c.1586C>T (p.Ala529Val)
NM_173689.7(CRB2):c.159C>G (p.Cys53Trp)
NM_173689.7(CRB2):c.1622C>T (p.Pro541Leu)
NM_173689.7(CRB2):c.1654G>T (p.Ala552Ser)
NM_173689.7(CRB2):c.1692C>T (p.Ala564=) rs535319219
NM_173689.7(CRB2):c.1703C>T (p.Ser568Phe)
NM_173689.7(CRB2):c.1719C>T (p.Asp573=)
NM_173689.7(CRB2):c.1750C>A (p.Arg584Ser) rs55951681
NM_173689.7(CRB2):c.1750C>T (p.Arg584Cys) rs55951681
NM_173689.7(CRB2):c.1761C>T (p.Gly587=)
NM_173689.7(CRB2):c.1764C>T (p.His588=)
NM_173689.7(CRB2):c.1794C>T (p.Asn598=)
NM_173689.7(CRB2):c.1813C>T (p.Arg605Cys)
NM_173689.7(CRB2):c.1829G>T (p.Arg610Leu) rs144365725
NM_173689.7(CRB2):c.1848C>T (p.His616=)
NM_173689.7(CRB2):c.1853G>C (p.Gly618Ala)
NM_173689.7(CRB2):c.1876C>A (p.His626Asn)
NM_173689.7(CRB2):c.1912C>T (p.Pro638Ser) rs1383031137
NM_173689.7(CRB2):c.1914C>G (p.Pro638=)
NM_173689.7(CRB2):c.1914C>T (p.Pro638=)
NM_173689.7(CRB2):c.1920C>A (p.Cys640Ter) rs55965026
NM_173689.7(CRB2):c.1923T>C (p.Ala641=) rs2132778005
NM_173689.7(CRB2):c.1927+20G>C
NM_173689.7(CRB2):c.1928-15C>T
NM_173689.7(CRB2):c.1967G>A (p.Ser656Asn) rs1386660838
NM_173689.7(CRB2):c.1968C>T (p.Ser656=)
NM_173689.7(CRB2):c.2004C>T (p.Pro668=)
NM_173689.7(CRB2):c.201G>T (p.Glu67Asp)
NM_173689.7(CRB2):c.2035C>T (p.Arg679Trp)
NM_173689.7(CRB2):c.2036G>A (p.Arg679Gln)
NM_173689.7(CRB2):c.2040G>A (p.Glu680=)
NM_173689.7(CRB2):c.2061G>A (p.Gln687=)
NM_173689.7(CRB2):c.2078C>T (p.Ala693Val) rs1391646509
NM_173689.7(CRB2):c.2091A>G (p.Thr697=)
NM_173689.7(CRB2):c.2102G>A (p.Ser701Asn)
NM_173689.7(CRB2):c.2102G>C (p.Ser701Thr)
NM_173689.7(CRB2):c.2126_2127inv (p.Val709Ala)
NM_173689.7(CRB2):c.2209C>G (p.Gln737Glu)
NM_173689.7(CRB2):c.2229G>T (p.Gln743His)
NM_173689.7(CRB2):c.2238C>G (p.His746Gln)
NM_173689.7(CRB2):c.2238C>T (p.His746=) rs757353722
NM_173689.7(CRB2):c.2254C>A (p.Leu752Ile)
NM_173689.7(CRB2):c.2262C>T (p.Ala754=)
NM_173689.7(CRB2):c.2266A>C (p.Ser756Arg)
NM_173689.7(CRB2):c.2272C>G (p.Pro758Ala)
NM_173689.7(CRB2):c.2291G>A (p.Arg764Gln)
NM_173689.7(CRB2):c.2330T>A (p.Leu777His) rs2132781037
NM_173689.7(CRB2):c.2336del (p.Phe779fs) rs2132781116
NM_173689.7(CRB2):c.234C>T (p.His78=)
NM_173689.7(CRB2):c.235G>A (p.Gly79Ser)
NM_173689.7(CRB2):c.2360C>G (p.Ser787Ter) rs2132781188
NM_173689.7(CRB2):c.2373C>T (p.Ser791=)
NM_173689.7(CRB2):c.2374G>A (p.Glu792Lys)
NM_173689.7(CRB2):c.2379C>T (p.Leu793=)
NM_173689.7(CRB2):c.2383G>A (p.Gly795Ser)
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_173689.7(CRB2):c.2415C>T (p.Cys805=)
NM_173689.7(CRB2):c.2424G>C (p.Glu808Asp)
NM_173689.7(CRB2):c.2436+16_2436+18dup
NM_173689.7(CRB2):c.2436+16_2436+21dup rs755284585
NM_173689.7(CRB2):c.2436+17GGT[5] rs748183673
NM_173689.7(CRB2):c.2436+18G>C rs2132782035
NM_173689.7(CRB2):c.2436+19T>C
NM_173689.7(CRB2):c.2436+8T>A rs2132781832
NM_173689.7(CRB2):c.2446T>C (p.Cys816Arg) rs1251795917
NM_173689.7(CRB2):c.2453A>G (p.Asn818Ser)
NM_173689.7(CRB2):c.2465G>A (p.Cys822Tyr)
NM_173689.7(CRB2):c.2469C>T (p.Leu823=)
NM_173689.7(CRB2):c.2498G>T (p.Cys833Phe) rs1337737029
NM_173689.7(CRB2):c.2507A>G (p.Asn836Ser) rs1316960672
NM_173689.7(CRB2):c.251C>T (p.Pro84Leu) rs1432211908
NM_173689.7(CRB2):c.2523G>T (p.Thr841=)
NM_173689.7(CRB2):c.2528C>T (p.Ala843Val)
NM_173689.7(CRB2):c.2560C>T (p.Leu854Phe) rs1354275237
NM_173689.7(CRB2):c.2586C>T (p.Val862=)
NM_173689.7(CRB2):c.2602+4A>T
NM_173689.7(CRB2):c.2603-112G>A rs115964262
NM_173689.7(CRB2):c.2606T>C (p.Val869Ala)
NM_173689.7(CRB2):c.2611G>C (p.Glu871Gln)
NM_173689.7(CRB2):c.2635C>G (p.Pro879Ala)
NM_173689.7(CRB2):c.2658C>T (p.Asn886=)
NM_173689.7(CRB2):c.265C>T (p.Pro89Ser)
NM_173689.7(CRB2):c.2671C>T (p.Arg891Cys) rs372324248
NM_173689.7(CRB2):c.2682C>G (p.Gly894=)
NM_173689.7(CRB2):c.2682C>T (p.Gly894=)
NM_173689.7(CRB2):c.269C>G (p.Thr90Ser) rs2808415
NM_173689.7(CRB2):c.269_270delinsAT (p.Thr90Asn) rs2132745305
NM_173689.7(CRB2):c.2703C>A (p.Arg901=) rs1202191973
NM_173689.7(CRB2):c.271G>A (p.Gly91Ser)
NM_173689.7(CRB2):c.2732G>A (p.Arg911His)
NM_173689.7(CRB2):c.2736C>T (p.Ala912=)
NM_173689.7(CRB2):c.2752G>A (p.Glu918Lys) rs1440001780
NM_173689.7(CRB2):c.2757C>A (p.Gly919=)
NM_173689.7(CRB2):c.2775C>A (p.Arg925=)
NM_173689.7(CRB2):c.277C>T (p.Arg93Cys)
NM_173689.7(CRB2):c.2793G>A (p.Gly931=)
NM_173689.7(CRB2):c.2795dup (p.Val933fs) rs1276377271
NM_173689.7(CRB2):c.2803G>A (p.Gly935Arg) rs2042045704
NM_173689.7(CRB2):c.2814C>G (p.Gly938=) rs2042045921
NM_173689.7(CRB2):c.2814C>T (p.Gly938=)
NM_173689.7(CRB2):c.2820C>A (p.Pro940=) rs1372723630
NM_173689.7(CRB2):c.2823C>A (p.Gly941=) rs1389043154
NM_173689.7(CRB2):c.2857G>A (p.Asp953Asn) rs998165678
NM_173689.7(CRB2):c.288C>T (p.Cys96=)
NM_173689.7(CRB2):c.2893C>T (p.Arg965Cys) rs2042047960
NM_173689.7(CRB2):c.2897C>T (p.Pro966Leu)
NM_173689.7(CRB2):c.2904_2905insGCCACCTCGCGCTGGCT (p.Thr969fs)
NM_173689.7(CRB2):c.2904_2905inv (p.Thr969Ala)
NM_173689.7(CRB2):c.2912C>T (p.Ser971Leu)
NM_173689.7(CRB2):c.293C>T (p.Pro98Leu)
NM_173689.7(CRB2):c.2940C>T (p.Ala980=)
NM_173689.7(CRB2):c.2955_2963del (p.Arg987_Leu989del)
NM_173689.7(CRB2):c.3015_3016delinsAT (p.Leu1005_Leu1006=)
NM_173689.7(CRB2):c.3021T>G (p.Ala1007=) rs7848449
NM_173689.7(CRB2):c.3051G>A (p.Val1017=)
NM_173689.7(CRB2):c.3061G>A (p.Gly1021Ser) rs746687862
NM_173689.7(CRB2):c.3069C>T (p.Pro1023=) rs2132792362
NM_173689.7(CRB2):c.3089_3104del (p.Arg1030fs) rs879255251
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_173689.7(CRB2):c.3093C>T (p.Pro1031=)
NM_173689.7(CRB2):c.3116A>G (p.Glu1039Gly)
NM_173689.7(CRB2):c.311G>A (p.Arg104His)
NM_173689.7(CRB2):c.3124G>A (p.Ala1042Thr)
NM_173689.7(CRB2):c.3125C>T (p.Ala1042Val)
NM_173689.7(CRB2):c.3143C>T (p.Pro1048Leu)
NM_173689.7(CRB2):c.3146C>T (p.Ala1049Val)
NM_173689.7(CRB2):c.315C>A (p.Cys105Ter) rs149815227
NM_173689.7(CRB2):c.315C>T (p.Cys105=)
NM_173689.7(CRB2):c.3164G>A (p.Arg1055His)
NM_173689.7(CRB2):c.3174C>G (p.Pro1058=)
NM_173689.7(CRB2):c.3207T>G (p.Gly1069=)
NM_173689.7(CRB2):c.3213C>T (p.Cys1071=)
NM_173689.7(CRB2):c.3228C>T (p.Asp1076=)
NM_173689.7(CRB2):c.3267G>A (p.Pro1089=)
NM_173689.7(CRB2):c.3273C>T (p.Cys1091=) rs754880909
NM_173689.7(CRB2):c.3285C>G (p.Val1095=)
NM_173689.7(CRB2):c.3288C>T (p.Asp1096=)
NM_173689.7(CRB2):c.3300C>G (p.Ser1100=) rs756726174
NM_173689.7(CRB2):c.3349G>A (p.Glu1117Lys)
NM_173689.7(CRB2):c.3355C>T (p.Arg1119Cys)
NM_173689.7(CRB2):c.3362C>T (p.Pro1121Leu) rs753503336
NM_173689.7(CRB2):c.3366T>C (p.Pro1122=)
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp) rs543547663
NM_173689.7(CRB2):c.3380C>T (p.Pro1127Leu) rs781770011
NM_173689.7(CRB2):c.3381G>A (p.Pro1127=)
NM_173689.7(CRB2):c.3385T>A (p.Cys1129Ser)
NM_173689.7(CRB2):c.3385T>C (p.Cys1129Arg)
NM_173689.7(CRB2):c.3389+10_3389+21del
NM_173689.7(CRB2):c.3389+22dup rs534788085
NM_173689.7(CRB2):c.3390-15C>G
NM_173689.7(CRB2):c.3390-235G>C rs13288149
NM_173689.7(CRB2):c.3399C>T (p.Val1133=)
NM_173689.7(CRB2):c.3417C>T (p.Ser1139=) rs375028496
NM_173689.7(CRB2):c.3424G>A (p.Val1142Ile)
NM_173689.7(CRB2):c.3447A>G (p.Pro1149=)
NM_173689.7(CRB2):c.3454G>A (p.Gly1152Ser)
NM_173689.7(CRB2):c.3465C>T (p.Pro1155=)
NM_173689.7(CRB2):c.3484C>T (p.Leu1162=)
NM_173689.7(CRB2):c.3485dup (p.Glu1163fs) rs1564378996
NM_173689.7(CRB2):c.3493C>G (p.Leu1165Val)
NM_173689.7(CRB2):c.34dup (p.Gln12fs) rs1442463365
NM_173689.7(CRB2):c.3506+10G>A
NM_173689.7(CRB2):c.3507-12del
NM_173689.7(CRB2):c.3507-16C>T
NM_173689.7(CRB2):c.3553G>C (p.Gly1185Arg)
NM_173689.7(CRB2):c.3578G>A (p.Gly1193Glu)
NM_173689.7(CRB2):c.3579G>A (p.Gly1193=)
NM_173689.7(CRB2):c.3590G>A (p.Cys1197Tyr)
NM_173689.7(CRB2):c.3593T>C (p.Ile1198Thr)
NM_173689.7(CRB2):c.3632C>T (p.Ala1211Val)
NM_173689.7(CRB2):c.3633+19G>A
NM_173689.7(CRB2):c.3633+204C>T
NM_173689.7(CRB2):c.3633+9T>C rs2132804092
NM_173689.7(CRB2):c.3633G>A (p.Ala1211=)
NM_173689.7(CRB2):c.3634-13G>A
NM_173689.7(CRB2):c.3642G>A (p.Leu1214=)
NM_173689.7(CRB2):c.3644C>T (p.Pro1215Leu)
NM_173689.7(CRB2):c.3647T>G (p.Leu1216Arg)
NM_173689.7(CRB2):c.3686C>T (p.Ala1229Val)
NM_173689.7(CRB2):c.3699CCT[5] (p.Leu1239del)
NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup) rs767432277
NM_173689.7(CRB2):c.3700_3703del (p.Leu1234fs) rs1564380625
NM_173689.7(CRB2):c.3702C>T (p.Leu1234=) rs747403093
NM_173689.7(CRB2):c.370C>A (p.Arg124Ser) rs148573710
NM_173689.7(CRB2):c.370C>T (p.Arg124Cys) rs148573710
NM_173689.7(CRB2):c.3718G>A (p.Gly1240Ser)
NM_173689.7(CRB2):c.371G>A (p.Arg124His)
NM_173689.7(CRB2):c.3752G>A (p.Arg1251His)
NM_173689.7(CRB2):c.3755G>A (p.Arg1252His)
NM_173689.7(CRB2):c.3787C>G (p.Gln1263Glu)
NM_173689.7(CRB2):c.3796G>C (p.Ala1266Pro)
NM_173689.7(CRB2):c.3806G>A (p.Arg1269Gln) rs773265852
NM_173689.7(CRB2):c.3808C>G (p.Leu1270Val)
NM_173689.7(CRB2):c.3819_3820del (p.Asp1273fs)
NM_173689.7(CRB2):c.3826_3828del (p.Leu1276del)
NM_173689.7(CRB2):c.382_386dup (p.Tyr130fs)
NM_173689.7(CRB2):c.3831G>A (p.Lys1277=) rs1588224039
NM_173689.7(CRB2):c.3839C>T (p.Pro1280Leu)
NM_173689.7(CRB2):c.3855C>T (p.Ile1285=)
NM_173689.7(CRB2):c.410G>A (p.Gly137Asp)
NM_173689.7(CRB2):c.418+16G>A
NM_173689.7(CRB2):c.419-5T>G rs752148451
NM_173689.7(CRB2):c.444C>T (p.Asp148=) rs1295704942
NM_173689.7(CRB2):c.445G>C (p.Glu149Gln)
NM_173689.7(CRB2):c.467T>C (p.Leu156Pro)
NM_173689.7(CRB2):c.471C>G (p.His157Gln) rs113157023
NM_173689.7(CRB2):c.471C>T (p.His157=)
NM_173689.7(CRB2):c.492C>T (p.Gly164=)
NM_173689.7(CRB2):c.513G>A (p.Val171=)
NM_173689.7(CRB2):c.519G>A (p.Ala173=)
NM_173689.7(CRB2):c.54G>T (p.Leu18=) rs1588200038
NM_173689.7(CRB2):c.584A>G (p.His195Arg)
NM_173689.7(CRB2):c.58C>T (p.Leu20=)
NM_173689.7(CRB2):c.592dup (p.Thr198fs) rs1417339548
NM_173689.7(CRB2):c.597_600delinsTCATGTCAACGTGCCCTGGTCAACGGGCACCCGT (p.His200_Asp201insValAsnValProTrpSerThrGlyThrArg) rs2132756010
NM_173689.7(CRB2):c.614+5G>A
NM_173689.7(CRB2):c.614+9G>T
NM_173689.7(CRB2):c.615-13G>A
NM_173689.7(CRB2):c.621G>A (p.Arg207=) rs1210596630
NM_173689.7(CRB2):c.629G>A (p.Cys210Tyr)
NM_173689.7(CRB2):c.631G>A (p.Ala211Thr) rs1189196003
NM_173689.7(CRB2):c.638C>T (p.Thr213Ile) rs2041930013
NM_173689.7(CRB2):c.667G>C (p.Glu223Gln)
NM_173689.7(CRB2):c.692C>T (p.Pro231Leu) rs1588209110
NM_173689.7(CRB2):c.698A>G (p.Glu233Gly) rs2132757168
NM_173689.7(CRB2):c.723C>T (p.Gly241=)
NM_173689.7(CRB2):c.726C>T (p.Leu242=)
NM_173689.7(CRB2):c.732C>T (p.Ser244=)
NM_173689.7(CRB2):c.744C>T (p.Leu248=)
NM_173689.7(CRB2):c.754+209G>A rs146684461
NM_173689.7(CRB2):c.755-16G>A
NM_173689.7(CRB2):c.755-16G>T
NM_173689.7(CRB2):c.755-16GT[6]
NM_173689.7(CRB2):c.755-18G>A rs775440107
NM_173689.7(CRB2):c.755-1G>A rs2132760566
NM_173689.7(CRB2):c.755-210del rs3050063
NM_173689.7(CRB2):c.755-210dup rs3050063
NM_173689.7(CRB2):c.755-211_755-210del rs3050063
NM_173689.7(CRB2):c.755-211_755-210dup rs3050063
NM_173689.7(CRB2):c.755-70C>G rs28647836
NM_173689.7(CRB2):c.775G>A (p.Glu259Lys)
NM_173689.7(CRB2):c.775G>C (p.Glu259Gln) rs373930614
NM_173689.7(CRB2):c.777G>A (p.Glu259=)
NM_173689.7(CRB2):c.784G>A (p.Glu262Lys)
NM_173689.7(CRB2):c.805C>T (p.Pro269Ser) rs748154967
NM_173689.7(CRB2):c.836G>C (p.Arg279Pro)
NM_173689.7(CRB2):c.845C>T (p.Pro282Leu)
NM_173689.7(CRB2):c.846G>A (p.Pro282=)
NM_173689.7(CRB2):c.856G>A (p.Gly286Arg)
NM_173689.7(CRB2):c.861T>C (p.Gly287=) rs1301738641
NM_173689.7(CRB2):c.882C>T (p.Gly294=)
NM_173689.7(CRB2):c.883G>A (p.Ala295Thr) rs74778545
NM_173689.7(CRB2):c.883G>T (p.Ala295Ser) rs74778545
NM_173689.7(CRB2):c.905C>T (p.Ala302Val)
NM_173689.7(CRB2):c.906G>A (p.Ala302=)
NM_173689.7(CRB2):c.90G>A (p.Leu30=)
NM_173689.7(CRB2):c.913C>T (p.Leu305=)
NM_173689.7(CRB2):c.932G>A (p.Gly311Asp) rs2132761485
NM_173689.7(CRB2):c.937G>A (p.Glu313Lys)
NM_173689.7(CRB2):c.94+11G>A
NM_173689.7(CRB2):c.94+16T>C
NM_173689.7(CRB2):c.94+19C>T
NM_173689.7(CRB2):c.940+100_940+106del rs68008388
NM_173689.7(CRB2):c.940+48del rs568158613
NM_173689.7(CRB2):c.940+65CCCCCCCAC[3] rs1166674622
NM_173689.7(CRB2):c.940+71C>T rs566843140
NM_173689.7(CRB2):c.940+72A>C rs150634227
NM_173689.7(CRB2):c.940+79_940+80del rs10537052
NM_173689.7(CRB2):c.941-100CT[3] rs201080656
NM_173689.7(CRB2):c.941-12_941-11del rs1445601594
NM_173689.7(CRB2):c.941-19A>C rs1239380631
NM_173689.7(CRB2):c.951C>A (p.Cys317Ter)
NM_173689.7(CRB2):c.952G>A (p.Gly318Ser) rs759937525
NM_173689.7(CRB2):c.952G>C (p.Gly318Arg) rs759937525
NM_173689.7(CRB2):c.966C>A (p.Asp322Glu)
NM_173689.7(CRB2):c.980G>A (p.Arg327Gln) rs753791463
NM_173689.7(CRB2):c.998G>T (p.Gly333Val)
NM_173689.7(CRB2):c.999C>T (p.Gly333=)
NM_173689.7(CRB2):c.99G>A (p.Thr33=)

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