ClinVar Miner

List of variants in gene CRB1 reported as pathogenic for Leber congenital amaurosis 8

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Total variants: 119
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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.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.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.1084C>T (p.Gln362Ter) rs778627080 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 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.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201253.3(CRB1):c.1149dup (p.Ile384fs) rs1660517678 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.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) rs776591659 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.3122T>C (p.Met1041Thr) rs62635656 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 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.1041del (p.Cys348fs) rs1660507732
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter) rs1660515780
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1148_1149dup (p.Ile384fs) rs1660517312
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.134_135del (p.Thr44_Cys45insTer) rs2125303672
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) rs1664292210
NM_201253.3(CRB1):c.139del (p.Asp47fs)
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter)
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) rs1664325377
NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter) rs371114178
NM_201253.3(CRB1):c.1971del (p.Asn657fs) rs1664343244
NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter) rs1664348016
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter) rs1558127317
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) rs2125193925
NM_201253.3(CRB1):c.2128+1G>C rs2125472205
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
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.2243del (p.Pro748fs) rs1664651786
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter) rs766411096
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter) rs1664669402
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter) rs62636269
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs) rs778419716
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter)
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2630_2631dup (p.Leu878fs) rs2125485368
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2853dup (p.Ala952fs) rs281865173
NM_201253.3(CRB1):c.2981_2982del (p.Lys994fs)
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.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter) rs1249210332
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
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.3343_3352del (p.Gly1115fs)
NM_201253.3(CRB1):c.3347del (p.Phe1116fs) rs62636278
NM_201253.3(CRB1):c.3408del (p.Cys1137fs) rs1665093194
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
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.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter) rs1665100553
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) rs1553263218
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3668_3669delinsA (p.Gln1222_Cys1223insTer) rs1665112963
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
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.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.3997G>T (p.Glu1333Ter) rs137853136
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4006-1G>T rs752804194
NM_201253.3(CRB1):c.410del (p.Pro137fs) rs1558057153
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.4214del (p.Leu1405fs) rs1667270187
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.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.624T>A (p.Tyr208Ter) rs1658697788
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.691C>T (p.Gln231Ter) rs1659642763
NM_201253.3(CRB1):c.70+1G>A rs1237424465
NM_201253.3(CRB1):c.71delA
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.848+1G>A rs2125328634
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) rs587783015

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