ClinVar Miner

List of variants reported as pathogenic for retinitis pigmentosa 12

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 319
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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.2225T>C (p.Phe742Ser) rs140494140 0.00017
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
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.2688T>A (p.Cys896Ter) rs62636273 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.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) rs763324776 0.00003
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) rs778627080 0.00002
NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser) rs62636265 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 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.3676G>T (p.Gly1226Ter) rs757740068 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.4061C>A (p.Ala1354Asp) rs760100325 0.00002
NM_201253.3(CRB1):c.1149dup (p.Ile384fs) rs1660517678 0.00001
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr) rs746597173 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 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.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) rs62635656 0.00001
NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser) rs751303205 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.3686G>C (p.Cys1229Ser) rs1031415706 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.4039del (p.Thr1347fs) rs745422941 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter) rs1046799192 0.00001
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) rs778232235 0.00001
GRCh38/hg38 1q31.3(chr1:197435257-197441674)x0
NC_000001.10:g.(?_196918585)_(197742062_?)del
NC_000001.10:g.(?_197237324)_(197326153_?)del
NC_000001.10:g.(?_197237324)_(197447595_?)del
NC_000001.10:g.(?_197237543)_(197237632_?)del
NC_000001.10:g.(?_197237543)_(197447009_?)del
NC_000001.10:g.(?_197297532)_(197411442_?)del
NC_000001.10:g.(?_197297542)_(197326153_?)del
NC_000001.10:g.(?_197390110)_(197391106_?)del
NC_000001.10:g.(?_197390110)_(197398764_?)del
NC_000001.10:g.(?_197398094)_(197398754_?)del
NC_000001.10:g.(?_197404386)_(197410804_?)del
NC_000001.10:g.(?_197407491)_(197411316_?)del
NC_000001.10:g.(?_197407657)_(197411442_?)del
NC_000001.10:g.(?_197407677)_(197411422_?)del
NC_000001.10:g.(?_197407736)_(197423021_?)del
NC_000001.10:g.(?_197446784)_(197447595_?)del
NC_000001.11:g.(?_197084314)_(197478465_?)del
NC_000001.11:g.(?_197268194)_(197268492_?)del
NC_000001.11:g.(?_197268413)_(197357013_?)del
NC_000001.11:g.(?_197438537)_(197442544_?)del
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)
NM_201253.3(CRB1):c.1032_1033dup (p.Ser345fs)
NM_201253.3(CRB1):c.1057G>T (p.Glu353Ter) rs2125354456
NM_201253.3(CRB1):c.1078_1081del (p.Glu360fs) rs2125354507
NM_201253.3(CRB1):c.107C>A (p.Ser36Ter) rs2125303600
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter) rs1660515780
NM_201253.3(CRB1):c.112del (p.Ser38fs) rs62645750
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) rs1660516364
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
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.1208C>G (p.Ser403Ter) rs62645746
NM_201253.3(CRB1):c.1236T>A (p.Cys412Ter)
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
NM_201253.3(CRB1):c.1334_1740del (p.Cys445fs) rs1664289410
NM_201253.3(CRB1):c.1339dup (p.His447fs) rs2125469313
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer) rs2125303672
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) rs1664292210
NM_201253.3(CRB1):c.138del (p.Asp47fs)
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) rs963201816
NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg) rs1664303657
NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro)
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) rs878853364
NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)
NM_201253.3(CRB1):c.1649del (p.Asn550fs)
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1655del (p.Gln551_Ser552insTer)
NM_201253.3(CRB1):c.1660del (p.Val554fs) rs1664313783
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)
NM_201253.3(CRB1):c.1697del (p.Glu566fs) rs1664317534
NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter) rs2125470583
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.1772_1775del (p.Cys591fs) rs1664325377
NM_201253.3(CRB1):c.1782del (p.Ala595fs)
NM_201253.3(CRB1):c.1813del (p.Ile605fs)
NM_201253.3(CRB1):c.1831del (p.Ser611fs) rs2125471098
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.1856del (p.Gly619fs) rs2125471177
NM_201253.3(CRB1):c.1896_1908del (p.Met633fs) rs2125471347
NM_201253.3(CRB1):c.18del (p.Asn7fs) rs2125193922
NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter) rs1664341626
NM_201253.3(CRB1):c.194_195del (p.Lys65fs)
NM_201253.3(CRB1):c.1974_1990del (p.Ser659fs) rs2125471663
NM_201253.3(CRB1):c.1997T>A (p.Val666Asp) rs189395222
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2082C>A (p.Tyr694Ter) rs2125472041
NM_201253.3(CRB1):c.2083C>T (p.Gln695Ter)
NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg)
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) rs2125193925
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2129-1G>A
NM_201253.3(CRB1):c.2129-1G>C rs1664642051
NM_201253.3(CRB1):c.2129-1G>T
NM_201253.3(CRB1):c.2129-2A>C
NM_201253.3(CRB1):c.2129-2A>G
NM_201253.3(CRB1):c.2132_2133del (p.Tyr711fs)
NM_201253.3(CRB1):c.2150del (p.Gly717fs) rs2125483574
NM_201253.3(CRB1):c.2171_2172del (p.Tyr724fs)
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
NM_201253.3(CRB1):c.2195_2204del (p.Ser732fs)
NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys)
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC (p.Arg744fs) rs1664650245
NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)
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.2249G>T (p.Gly750Val) rs2125483925
NM_201253.3(CRB1):c.2257_2264dup (p.Leu755delinsPheTer)
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2293_2294del (p.Val765fs)
NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)
NM_201253.3(CRB1):c.2355del (p.Lys785fs)
NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)
NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter) rs2125484499
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) rs1571540037
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter) rs1664669402
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) 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.2527_2598del (p.Leu843_Pro866del)
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.2541_2542del (p.Phe848fs) rs2125485040
NM_201253.3(CRB1):c.2543del (p.Phe848fs)
NM_201253.3(CRB1):c.2570dup (p.Asn858fs) rs2125485135
NM_201253.3(CRB1):c.2578del (p.Gln860fs) rs1558132353
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2582del (p.Asn861fs)
NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2647del (p.Gln883fs) rs2125485467
NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala)
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter) rs2125488868
NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter) rs2125489019
NM_201253.3(CRB1):c.276_294delinsTGAACACTGTAC (p.Arg92fs)
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter) rs2125489182
NM_201253.3(CRB1):c.2842+1delinsAA rs1664779239
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) rs878853371
NM_201253.3(CRB1):c.2881del (p.Ile961fs)
NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)
NM_201253.3(CRB1):c.2904dup (p.Ile969fs)
NM_201253.3(CRB1):c.2942_2943del (p.Arg981fs) rs1290879180
NM_201253.3(CRB1):c.2955_2956insGA (p.Asn986fs)
NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr)
NM_201253.3(CRB1):c.2969del (p.Leu990fs)
NM_201253.3(CRB1):c.2982_3064dup (p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer)
NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter) rs62635655
NM_201253.3(CRB1):c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe)
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) rs143511261
NM_201253.3(CRB1):c.3055_3059dup (p.Met1020fs)
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn) rs2125499421
NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter) rs2125499463
NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs) rs1665063400
NM_201253.3(CRB1):c.3112_3113dup (p.Leu1039fs)
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3134del (p.Leu1045fs) rs2125499552
NM_201253.3(CRB1):c.3142_3149del (p.Thr1048fs)
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) rs1665066272
NM_201253.3(CRB1):c.3144del (p.Ser1049fs) rs1275965097
NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter)
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr) rs727503889
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)
NM_201253.3(CRB1):c.3292del (p.Ser1098fs)
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3325_3326del (p.Tyr1109fs) rs2125500141
NM_201253.3(CRB1):c.3325dup (p.Tyr1109fs) rs2125500127
NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys) rs1665086143
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter) rs62636277
NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter) rs2125500230
NM_201253.3(CRB1):c.3395_3879-490del
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.344_356dup (p.Cys119fs)
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) rs1558138741
NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser)
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)
NM_201253.3(CRB1):c.3507_3508del (p.Trp1169fs)
NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter)
NM_201253.3(CRB1):c.3540_3541dup (p.Cys1181fs) rs2125500799
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) rs62636291
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) rs1553263218
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3630del (p.Cys1211fs)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3658_3659del (p.His1221fs)
NM_201253.3(CRB1):c.3667dup (p.Cys1223fs)
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)
NM_201253.3(CRB1):c.3708_3709dup (p.Ser1237fs)
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
NM_201253.3(CRB1):c.3762del (p.Leu1254fs)
NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter) rs2125506218
NM_201253.3(CRB1):c.379C>T (p.Gln127Ter) rs1658673791
NM_201253.3(CRB1):c.3822C>A (p.Cys1274Ter)
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)
NM_201253.3(CRB1):c.3860del (p.Pro1287fs) rs2125506442
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) rs281865174
NM_201253.3(CRB1):c.3887del (p.Lys1296fs) rs765536137
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
NM_201253.3(CRB1):c.3946_3949del (p.Leu1316fs)
NM_201253.3(CRB1):c.3950del (p.Asn1317fs)
NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter) rs1665482895
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter) rs1372774777
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) rs1665487563
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4005+1G>C rs890453675
NM_201253.3(CRB1):c.4005+2T>C rs2125514028
NM_201253.3(CRB1):c.4005+2T>G
NM_201253.3(CRB1):c.4006-1G>A
NM_201253.3(CRB1):c.4006-1G>T rs752804194
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter) rs1206810310
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.4142_4147del (p.Pro1381_Ser1382del) rs2125574108
NM_201253.3(CRB1):c.4168dup (p.Arg1390fs)
NM_201253.3(CRB1):c.4176_4177del (p.Glu1392fs) rs2125574236
NM_201253.3(CRB1):c.4199del (p.Pro1400fs)
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.425del (p.Gly142fs)
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.481del (p.Ala161fs) rs62635048
NM_201253.3(CRB1):c.490C>T (p.Gln164Ter) rs1658684590
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.522T>A (p.Cys174Ter) rs1658688864
NM_201253.3(CRB1):c.523_532dup (p.Tyr178fs) rs1658689096
NM_201253.3(CRB1):c.535C>T (p.Gln179Ter)
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) rs1658692554
NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.586A>T (p.Lys196Ter)
NM_201253.3(CRB1):c.5del (p.Ala2fs)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
NM_201253.3(CRB1):c.630dup (p.Ile211fs)
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.653-1G>A rs760287363
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) rs778731851
NM_201253.3(CRB1):c.668dup (p.Leu223fs) rs2125328217
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter) rs1659642763
NM_201253.3(CRB1):c.70+1G>C
NM_201253.3(CRB1):c.716G>T (p.Cys239Phe) rs771079655
NM_201253.3(CRB1):c.718C>T (p.Gln240Ter) rs2125328350
NM_201253.3(CRB1):c.71del (p.Asn24fs) rs1654722914
NM_201253.3(CRB1):c.71delA
NM_201253.3(CRB1):c.733dup (p.Ala245fs) rs1659645978
NM_201253.3(CRB1):c.743del (p.Cys248fs)
NM_201253.3(CRB1):c.750T>A (p.Cys250Ter) rs62635652
NM_201253.3(CRB1):c.770dup (p.Asp257fs) rs2125328456
NM_201253.3(CRB1):c.798_799del (p.Ala267fs) rs2125328494
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) rs886043587
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter) rs753224594
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe) rs1460946384
NM_201253.3(CRB1):c.848+1G>A rs2125328634
NM_201253.3(CRB1):c.962_966del (p.Asp321fs) rs2125333406
NM_201253.3(CRB1):c.975T>A (p.Cys325Ter)
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277
NM_201253.3(CRB1):c.986del (p.Pro329fs)
NM_201253.3(CRB1):c.995_996del (p.Thr332fs) rs1660503192
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) rs587783015
NM_201253.3(CRB1):c.998G>C (p.Gly333Ala) rs587783015
NM_201253.3:c.2185_2186insAluY2174_2185dup
Single allele

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