ClinVar Miner

List of variants in gene CRB1 reported as likely pathogenic for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 359
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_201253.3(CRB1):c.430T>G (p.Phe144Val) rs62636262 0.00021
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter) rs1409490389 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) rs763324776 0.00003
NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser) rs62636265 0.00002
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) rs267598278 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe) rs768713412 0.00002
NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr) rs754575460 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser) rs777377174 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr) rs776788104 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) rs768905244 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) rs1180527322 0.00001
NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys) rs62645755 0.00001
NM_201253.3(CRB1):c.2159A>T (p.Asp720Val) rs766989894 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg) rs539189291 0.00001
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) rs776591659 0.00001
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val) rs757137398 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter) rs1426006136 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter) rs1342970033 0.00001
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg) rs767368951 0.00001
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser) rs1031415706 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter) rs1246546027 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) rs752559648 0.00001
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) rs1658691162 0.00001
NM_201253.3(CRB1):c.601T>C (p.Cys201Arg) rs762835866 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_201253.3(CRB1):c.716G>C (p.Cys239Ser) rs771079655 0.00001
NM_201253.3(CRB1):c.849-2A>G rs988534225 0.00001
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) rs778232235 0.00001
NC_000001.10:g.(?_197297542)_(197298143_?)del
NC_000001.10:g.(?_197313391)_(197411442_?)dup
NC_000001.10:g.(?_197325941)_(197326163_?)del
NC_000001.10:g.(?_197325951)_(197326153_?)del
NC_000001.10:g.(?_197446965)_(197449864_?)del
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_201253.3(CRB1):c.1055_1063del (p.Gly352_Cys354del)
NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)
NM_201253.3(CRB1):c.1106T>C (p.Leu369Pro)
NM_201253.3(CRB1):c.112del (p.Ser38fs) rs62645750
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) rs1660516364
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg) rs1571897130
NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1171+1G>A
NM_201253.3(CRB1):c.1172-1G>A
NM_201253.3(CRB1):c.1172-1G>T rs2125468776
NM_201253.3(CRB1):c.1172-2A>G rs2125468772
NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter)
NM_201253.3(CRB1):c.1229G>A (p.Gly410Asp) rs2125468954
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)
NM_201253.3(CRB1):c.1253del (p.Asn418fs)
NM_201253.3(CRB1):c.1267T>G (p.Cys423Gly)
NM_201253.3(CRB1):c.1268del (p.Cys423fs)
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
NM_201253.3(CRB1):c.1292_1295delinsGG (p.Thr431fs)
NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.132dup (p.Cys45fs) rs2125303667
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser) rs1664290387
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
NM_201253.3(CRB1):c.1421G>A (p.Gly474Asp)
NM_201253.3(CRB1):c.1426del (p.Thr476fs)
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1430G>T (p.Gly477Val) rs1277758473
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) rs963201816
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro)
NM_201253.3(CRB1):c.1499C>G (p.Ser500Ter)
NM_201253.3(CRB1):c.1523_1525del (p.Cys508_Asn509delinsTyr)
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln) rs1571523755
NM_201253.3(CRB1):c.1562C>T (p.Ala521Val) rs1664306632
NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu) rs2125470125
NM_201253.3(CRB1):c.1604_1607dup (p.Glu536fs) rs2125470141
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) rs878853364
NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1633delinsAA (p.Ser545fs)
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1665dup (p.Leu556fs)
NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro) rs1571524269
NM_201253.3(CRB1):c.1689del (p.Ser563fs)
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn) rs757279881
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)
NM_201253.3(CRB1):c.1696G>T (p.Glu566Ter) rs767359805
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr) rs1664322968
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1831del (p.Ser611fs) rs2125471098
NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser) rs1571525145
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.1881_1885dup (p.Asn629fs)
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter) rs1571525390
NM_201253.3(CRB1):c.18del (p.Asn7fs) rs2125193922
NM_201253.3(CRB1):c.1901del (p.Pro634fs)
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala) rs2125471502
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu) rs1553260517
NM_201253.3(CRB1):c.201_202del (p.Cys67_Asp68delinsTer) rs1658656722
NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg) rs779069205
NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val) rs748175297
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)
NM_201253.3(CRB1):c.2087G>C (p.Cys696Ser)
NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs)
NM_201253.3(CRB1):c.2120G>T (p.Cys707Phe)
NM_201253.3(CRB1):c.2128+1G>A rs2125472205
NM_201253.3(CRB1):c.2128+1G>C rs2125472205
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2129-1G>A
NM_201253.3(CRB1):c.2138C>T (p.Ala713Val) rs1664643556
NM_201253.3(CRB1):c.2168G>A (p.Gly723Asp)
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe) rs1664649015
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2223G>A (p.Met741Ile) rs1664649489
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu) rs863224862
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) rs28939720
NM_201253.3(CRB1):c.2234C>G (p.Thr745Arg) rs28939720
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)
NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser) rs2125483920
NM_201253.3(CRB1):c.2249G>A (p.Gly750Asp)
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) rs2125483925
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2308G>C (p.Gly770Arg)
NM_201253.3(CRB1):c.2363T>C (p.Leu788Pro)
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242
NM_201253.3(CRB1):c.2408dup (p.Tyr803Ter)
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro) rs1664667136
NM_201253.3(CRB1):c.2420T>G (p.Leu807Arg)
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) rs1571540037
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys) rs1664671663
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) rs1085307972
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs) rs778419716
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu) rs772476137
NM_201253.3(CRB1):c.2540T>C (p.Phe847Ser) rs758723407
NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)
NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp) rs757137398
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala) rs757137398
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270
NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr) rs1553249226
NM_201253.3(CRB1):c.255T>A (p.Cys85Ter)
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) rs1664678030
NM_201253.3(CRB1):c.2570_2574del (p.Leu857fs)
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg) rs1664680011
NM_201253.3(CRB1):c.2598A>C (p.Pro866=)
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp) rs1664683759
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys) rs2125485441
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter) rs759662695
NM_201253.3(CRB1):c.2676+1G>A
NM_201253.3(CRB1):c.2676+1G>T rs1664686689
NM_201253.3(CRB1):c.2676+2T>G
NM_201253.3(CRB1):c.2677-1G>T
NM_201253.3(CRB1):c.2677-2A>G
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser) rs1571544334
NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)
NM_201253.3(CRB1):c.2694T>G (p.Asn898Lys) rs2125488757
NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)
NM_201253.3(CRB1):c.2701G>T (p.Val901Phe) rs1664767158
NM_201253.3(CRB1):c.2704del (p.Cys902fs)
NM_201253.3(CRB1):c.2708_2709del (p.His903fs) rs1664767982
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter) rs2125488868
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) rs863223341
NM_201253.3(CRB1):c.2785_2787delinsTG (p.Gly929fs)
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) rs1558133731
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg) rs1664775504
NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)
NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)
NM_201253.3(CRB1):c.2832del (p.Gly945fs)
NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2842+1G>A
NM_201253.3(CRB1):c.2842+2T>C rs2125489334
NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) rs878853371
NM_201253.3(CRB1):c.2881del (p.Ile961fs)
NM_201253.3(CRB1):c.291del (p.Lys97fs) rs2125303994
NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr) rs2125498956
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.2984_2985del (p.Glu995fs)
NM_201253.3(CRB1):c.3008T>C (p.Ile1003Thr)
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3017C>A (p.Ser1006Tyr)
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) rs143511261
NM_201253.3(CRB1):c.3055_3057delinsGCAATTGACA (p.Tyr1019fs)
NM_201253.3(CRB1):c.3070del (p.Thr1024fs) rs2125499361
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile) rs62636274
NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs) rs1665063400
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) rs1665066272
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu) rs1665071224
NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr) rs727503889
NM_201253.3(CRB1):c.3194del (p.Thr1065fs)
NM_201253.3(CRB1):c.3296del (p.Thr1099fs)
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val) rs1665084413
NM_201253.3(CRB1):c.330del (p.Ile111fs)
NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter)
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3335del (p.Asn1112fs)
NM_201253.3(CRB1):c.3375del (p.Leu1126fs)
NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201253.3(CRB1):c.3429C>A (p.Cys1143Ter)
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg) rs2125500491
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) rs1558138741
NM_201253.3(CRB1):c.3495T>G (p.Cys1165Trp) rs1665099725
NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter) rs1665100409
NM_201253.3(CRB1):c.3522_3523del (p.Cys1174_Glu1175delinsTer) rs1665102146
NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser) rs62636291
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) rs62636291
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs)
NM_201253.3(CRB1):c.3621del (p.Gly1208fs)
NM_201253.3(CRB1):c.3630del (p.Cys1211fs)
NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser) rs1450635782
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)
NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs)
NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)
NM_201253.3(CRB1):c.3749+1G>A rs2125501295
NM_201253.3(CRB1):c.3749+1G>C
NM_201253.3(CRB1):c.3749+2_3749+3del rs1665120314
NM_201253.3(CRB1):c.3750-3_3750-2del
NM_201253.3(CRB1):c.3755dup (p.Ser1252fs)
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)
NM_201253.3(CRB1):c.3847del (p.Cys1283fs)
NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg) rs1665279918
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr) rs1665280076
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp) rs533997742
NM_201253.3(CRB1):c.3878+1G>A rs748927280
NM_201253.3(CRB1):c.3878+2dup rs1665282720
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_201253.3(CRB1):c.3884_3904del (p.Glu1295_Cys1301del) rs2125513549
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)
NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del) rs1571572235
NM_201253.3(CRB1):c.3926del (p.Gly1309fs)
NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe)
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser) rs62635649
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3961del (p.Cys1321fs)
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly) rs760544654
NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp) rs1665487563
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC rs1665488161
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr) rs1665489039
NM_201253.3(CRB1):c.4006-1G>C rs752804194
NM_201253.3(CRB1):c.401G>T (p.Cys134Phe)
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn) rs1667260204
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp) rs1667260968
NM_201253.3(CRB1):c.4130G>A (p.Gly1377Glu)
NM_201253.3(CRB1):c.413_417del (p.Ala138fs)
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg) rs1667264651
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter) rs878853369
NM_201253.3(CRB1):c.4182G>A (p.Trp1394Ter)
NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp) rs1490587812
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.456T>A (p.Cys152Ter)
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) rs1064797126
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe) rs1571848855
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.548G>A (p.Cys183Tyr) rs2125304648
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) rs1658692554
NM_201253.3(CRB1):c.573_577del (p.Asp193fs)
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
NM_201253.3(CRB1):c.601T>A (p.Cys201Ser)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.652+3_652+6del rs1658700284
NM_201253.3(CRB1):c.653-1G>A rs760287363
NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)
NM_201253.3(CRB1):c.70+1G>T rs1237424465
NM_201253.3(CRB1):c.70+2T>A rs1654723466
NM_201253.3(CRB1):c.71-2A>G rs1383691293
NM_201253.3(CRB1):c.712dup (p.Thr238fs)
NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)
NM_201253.3(CRB1):c.71del (p.Asn24fs) rs1654722914
NM_201253.3(CRB1):c.721del (p.Asp241fs)
NM_201253.3(CRB1):c.807dup (p.Pro270fs) rs878853366
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe) rs1460946384
NM_201253.3(CRB1):c.848+2T>C
NM_201253.3(CRB1):c.84dup (p.Lys29Ter)
NM_201253.3(CRB1):c.863del (p.Cys288fs)
NM_201253.3(CRB1):c.894_895del (p.Cys298_Glu299delinsTer)
NM_201253.3(CRB1):c.918G>A (p.Trp306Ter)
NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr) rs1659844562
NM_201253.3(CRB1):c.995_996del (p.Thr332fs) rs1660503192
NM_201253.3(CRB1):c.998del (p.Gly333fs) rs2125354244

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