ClinVar Miner

List of variants in gene CRB1 studied for Leber congenital amaurosis 8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 396
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_201253.3(CRB1):c.849-35T>C rs1337167 0.82735
NM_201253.3(CRB1):c.2677-493A>G rs7534863 0.41382
NM_201253.3(CRB1):c.71-12A>T rs12042179 0.33853
NM_201253.3(CRB1):c.849-62T>G rs1572514 0.24628
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602 0.00655
NM_201253.3(CRB1):c.*393T>C rs147966959 0.00373
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_201253.3(CRB1):c.2843-13C>T rs199808176 0.00109
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) rs116246250 0.00067
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283 0.00064
NM_201253.3(CRB1):c.3750-3T>C rs187937543 0.00063
NM_201253.3(CRB1):c.*412T>C rs564341986 0.00057
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_201253.3(CRB1):c.3878+15A>T rs200217112 0.00046
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) rs142090517 0.00045
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) rs140428156 0.00036
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_201253.3(CRB1):c.2976A>G (p.Ala992=) rs200379694 0.00035
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) rs201609001 0.00029
NM_201253.3(CRB1):c.1428C>T (p.Thr476=) rs62636282 0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614 0.00025
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263 0.00025
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) rs140494140 0.00017
NM_201253.3(CRB1):c.*116A>G rs575882211 0.00016
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile) rs144011428 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
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.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315 0.00011
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) rs111761880 0.00011
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284 0.00010
NM_201253.3(CRB1):c.*261A>G rs747349828 0.00009
NM_201253.3(CRB1):c.*324C>A rs190166697 0.00009
NM_201253.3(CRB1):c.1305A>T (p.Gly435=) rs34813822 0.00009
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) rs138667698 0.00009
NM_201253.2(CRB1):c.-195G>A rs886045782 0.00007
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185 0.00005
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=) rs753331276 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_201253.3(CRB1):c.*289A>G rs780654592 0.00004
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286 0.00004
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) rs530046423 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2419C>T (p.Leu807=) rs371089348 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787 0.00004
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) rs776191501 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.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.2874C>T (p.Ser958=) rs372778560 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 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.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_201253.3(CRB1):c.2010T>C (p.Cys670=) rs201949837 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 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.867G>A (p.Thr289=) rs147244321 0.00002
NM_201253.3(CRB1):c.*158G>T rs886045789 0.00001
NM_201253.3(CRB1):c.*171C>G rs1036503792 0.00001
NM_201253.3(CRB1):c.-55C>T rs965921500 0.00001
NM_201253.3(CRB1):c.1149dup (p.Ile384fs) rs1660517678 0.00001
NM_201253.3(CRB1):c.1172-12A>G rs146175509 0.00001
NM_201253.3(CRB1):c.1206T>C (p.Ser402=) rs373229699 0.00001
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr) rs992770731 0.00001
NM_201253.3(CRB1):c.1496G>T (p.Gly499Val) rs1283508348 0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) rs769859765 0.00001
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) rs750442312 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.1909C>T (p.Pro637Ser) rs1457623741 0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710 0.00001
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) rs1180527322 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr) rs757381371 0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784 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.2636T>C (p.Val879Ala) rs772386967 0.00001
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser) rs145525029 0.00001
NM_201253.3(CRB1):c.2677-343G>A rs760861776 0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312 0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) rs62635655 0.00001
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr) rs752329622 0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) rs62635656 0.00001
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys) rs1482942636 0.00001
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) rs115649214 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser) rs1031415706 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 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.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941 0.00001
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=) rs753097155 0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) rs752559648 0.00001
NM_201253.3(CRB1):c.411T>C (p.Pro137=) rs1009098995 0.00001
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) rs1658691162 0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) rs1658699227 0.00001
NM_201253.3(CRB1):c.639C>G (p.Pro213=) rs1208641510 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn) rs1452822430 0.00001
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser) rs911156007 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) rs778232235 0.00001
NM_201253.2(CRB1):c.-204C>T rs544047392
NM_201253.3(CRB1):c.*81C>A rs192819758
NM_201253.3(CRB1):c.*99G>T rs1429931885
NM_201253.3(CRB1):c.-56C>G rs1654712316
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.1041del (p.Cys348fs) rs1660507732
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro) rs1660514556
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.1147T>C (p.Cys383Arg) rs1571897130
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.1204T>C (p.Ser402Pro)
NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala) rs781359016
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter) rs62645746
NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter)
NM_201253.3(CRB1):c.1268del (p.Cys423fs)
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
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.134_135del (p.Thr44_Cys45insTer) rs2125303672
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) rs1664292210
NM_201253.3(CRB1):c.139del (p.Asp47fs)
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1426del (p.Thr476fs)
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.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter)
NM_201253.3(CRB1):c.1499C>G (p.Ser500Ter)
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
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.1699T>C (p.Trp567Arg) rs886043472
NM_201253.3(CRB1):c.1708G>A (p.Val570Met) rs754482666
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.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) rs1664325377
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr) rs752212470
NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter) rs371114178
NM_201253.3(CRB1):c.1831del (p.Ser611fs) rs2125471098
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.1878T>C (p.Ala626=) rs1413323140
NM_201253.3(CRB1):c.1901del (p.Pro634fs)
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.1971del (p.Asn657fs) rs1664343244
NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter) rs1664348016
NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter) rs1558127317
NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs)
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) rs2125193925
NM_201253.3(CRB1):c.2128+1G>C rs2125472205
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe) rs1664649015
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
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.2243del (p.Pro748fs) rs1664651786
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) rs2125483925
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
NM_201253.3(CRB1):c.2340C>T (p.Pro780=) rs2125484301
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.2416G>T (p.Glu806Ter) rs766411096
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro) rs1664667136
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys) rs1009552469
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.2489T>A (p.Ile830Asn) rs2125484835
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.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter)
NM_201253.3(CRB1):c.2540T>C (p.Phe847Ser) rs758723407
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.2570_2574del (p.Leu857fs)
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg) rs1664680011
NM_201253.3(CRB1):c.2630_2631dup (p.Leu878fs) rs2125485368
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.2668A>G (p.Ser890Gly)
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter) rs759662695
NM_201253.3(CRB1):c.2676+1G>A
NM_201253.3(CRB1):c.2677-1G>T
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser) rs1571544334
NM_201253.3(CRB1):c.2693A>G (p.Asn898Ser) rs780489778
NM_201253.3(CRB1):c.2704del (p.Cys902fs)
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>A (p.Gly936Arg)
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
NM_201253.3(CRB1):c.2832del (p.Gly945fs)
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.2843-3dup rs776525385
NM_201253.3(CRB1):c.2853dup (p.Ala952fs) rs281865173
NM_201253.3(CRB1):c.2863A>C (p.Asn955His) rs886045785
NM_201253.3(CRB1):c.2917C>G (p.Leu973Val) rs886045786
NM_201253.3(CRB1):c.291del (p.Lys97fs) rs2125303994
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.2981_2982del (p.Lys994fs)
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe) rs910299744
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.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile) rs62636274
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) rs1665062132
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) rs1665065652
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) rs1665066272
NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter) rs1249210332
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu) rs1665071224
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.3194del (p.Thr1065fs)
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
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.3318T>G (p.Tyr1106Ter)
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
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.3415C>T (p.Gln1139Ter)
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
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.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter) rs1665100553
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) rs1553263218
NM_201253.3(CRB1):c.3559A>T (p.Ile1187Phe) rs371586216
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly) rs1658671611
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln) rs376271122
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs)
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3668_3669delinsA (p.Gln1222_Cys1223insTer) rs1665112963
NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs)
NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3749+1G>C
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
NM_201253.3(CRB1):c.3847del (p.Cys1283fs)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) rs1665279435
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr) rs1665280076
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
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.3884_3904del (p.Glu1295_Cys1301del) rs2125513549
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
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.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.3999_4005+4delinsAAAGGAGAGC rs1665488161
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr) rs1665489039
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.4006-1G>T rs752804194
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.4106C>A (p.Thr1369Asn) rs1667262233
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>G (p.Pro1381Arg) rs1667264651
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) rs767920858
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.4214del (p.Leu1405fs) rs1667270187
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.456T>A (p.Cys152Ter)
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.549C>A (p.Cys183Ter)
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) rs1658692554
NM_201253.3(CRB1):c.579T>C (p.Asp193=) rs1382054822
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.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.653-1G>A rs760287363
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) rs778731851
NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter) rs1659642763
NM_201253.3(CRB1):c.70+1G>A rs1237424465
NM_201253.3(CRB1):c.70+1G>T rs1237424465
NM_201253.3(CRB1):c.71-2A>G rs1383691293
NM_201253.3(CRB1):c.712dup (p.Thr238fs)
NM_201253.3(CRB1):c.71delA
NM_201253.3(CRB1):c.721del (p.Asp241fs)
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
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.848+2T>C
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg) rs1571877872
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.984G>A (p.Trp328Ter) rs1571878277
NM_201253.3(CRB1):c.989-53T>G rs2786098
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys) rs1658648856
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.998del (p.Gly333fs) rs2125354244

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.