ClinVar Miner

List of variants studied for pigmented paravenous retinochoroidal atrophy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 254
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.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.4060G>A (p.Ala1354Thr) rs200469148 0.00019
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.1172-15T>A rs375141011 0.00006
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.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.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.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.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.2549G>T (p.Gly850Val) rs757137398 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.3017C>T (p.Ser1006Phe) rs878853367 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.3221T>C (p.Leu1074Ser) rs751303205 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.3419T>A (p.Leu1140Ter) rs1342970033 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.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=) rs753097155 0.00001
NM_201253.3(CRB1):c.411T>C (p.Pro137=) rs1009098995 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_201253.2(CRB1):c.-204C>T rs544047392
NM_201253.3(CRB1):c.*331_*337dup rs886045790
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.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.1106T>C (p.Leu369Pro)
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.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1172-1G>A
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
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.1426A>G (p.Thr476Ala) rs1553260314
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.1622A>G (p.Tyr541Cys)
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1660del (p.Val554fs) rs1664313783
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)
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.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) rs1664325377
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.1878T>C (p.Ala626=) rs1413323140
NM_201253.3(CRB1):c.1881_1885dup (p.Asn629fs)
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2129-1G>A
NM_201253.3(CRB1):c.2129-2A>G
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys) rs1009552469
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) rs1571540037
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.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
NM_201253.3(CRB1):c.2677-2A>G
NM_201253.3(CRB1):c.2708_2709del (p.His903fs) rs1664767982
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)
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.2843-3dup rs776525385
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.2980A>G (p.Lys994Glu) rs2125499116
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.3037C>T (p.Gln1013Ter) rs143511261
NM_201253.3(CRB1):c.3055_3057delinsGCAATTGACA (p.Tyr1019fs)
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) rs1665062132
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) rs1665065652
NM_201253.3(CRB1):c.3144del (p.Ser1049fs) rs1275965097
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
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.3375del (p.Leu1126fs)
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.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
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.3621del (p.Gly1208fs)
NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) rs1665279435
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3874G>C (p.Glu1292Gln)
NM_201253.3(CRB1):c.3878+9C>T rs1571564812
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3926del (p.Gly1309fs)
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter) rs1372774777
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
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.4106C>A (p.Thr1369Asn) rs1667262233
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.4182G>A (p.Trp1394Ter)
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.441_444del (p.Asp148fs) rs1571848688
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.523G>A (p.Val175Ile) rs1166808508
NM_201253.3(CRB1):c.527C>T (p.Pro176Leu) rs1417370819
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.635G>A (p.Cys212Tyr) rs1658699227
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.699T>A (p.Cys233Ter) rs1659643864
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg) rs1571877872
NM_201253.3(CRB1):c.989-53T>G rs2786098
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys) rs1658648856

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.