ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa 12; Leber congenital amaurosis 8

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 425
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.3750-3T>C rs187937543 0.00063
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) rs111761880 0.00011
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys) rs190037839 0.00011
NM_201253.3(CRB1):c.1829A>G (p.Asn610Ser) rs143655463 0.00009
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) rs138667698 0.00009
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn) rs1006177908 0.00007
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn) rs138936375 0.00006
NM_201253.3(CRB1):c.1982G>T (p.Gly661Val) rs780399679 0.00005
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile) rs938864433 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_201253.3(CRB1):c.1015G>A (p.Asp339Asn) rs1199892094 0.00004
NM_201253.3(CRB1):c.1577G>A (p.Arg526Gln) rs531283439 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.269G>A (p.Gly90Glu) rs368816923 0.00004
NM_201253.3(CRB1):c.2995C>T (p.Leu999Phe) rs983449864 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.4169G>A (p.Arg1390Gln) rs764581378 0.00004
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys) rs746307301 0.00003
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro) rs751018219 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 0.00003
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn) rs147924782 0.00003
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp) rs754054234 0.00003
NM_201253.3(CRB1):c.580C>T (p.Pro194Ser) rs772447283 0.00003
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu) rs763122264 0.00002
NM_201253.3(CRB1):c.1171+6G>A rs770160426 0.00002
NM_201253.3(CRB1):c.1465G>A (p.Glu489Lys) rs1389085632 0.00002
NM_201253.3(CRB1):c.1520T>C (p.Val507Ala) rs917528638 0.00002
NM_201253.3(CRB1):c.2051G>A (p.Arg684Lys) rs371557082 0.00002
NM_201253.3(CRB1):c.208A>G (p.Met70Val) rs771462053 0.00002
NM_201253.3(CRB1):c.2274C>G (p.Ser758Arg) rs1474289008 0.00002
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys) rs776426313 0.00002
NM_201253.3(CRB1):c.2825T>C (p.Val942Ala) rs531305918 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_201253.3(CRB1):c.3284G>A (p.Gly1095Glu) rs751213257 0.00002
NM_201253.3(CRB1):c.3850A>G (p.Met1284Val) rs766592082 0.00002
NM_201253.3(CRB1):c.404T>A (p.Ile135Asn) rs1316048135 0.00002
NM_201253.3(CRB1):c.506G>A (p.Gly169Asp) rs150314336 0.00002
NM_201253.3(CRB1):c.629G>T (p.Cys210Phe) rs972802394 0.00002
NM_201253.3(CRB1):c.1026A>C (p.Glu342Asp) rs144798709 0.00001
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu) rs765500601 0.00001
NM_201253.3(CRB1):c.1086A>T (p.Gln362His) rs1022182632 0.00001
NM_201253.3(CRB1):c.1152C>G (p.Ile384Met) rs781656059 0.00001
NM_201253.3(CRB1):c.1172-3C>G rs937310739 0.00001
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser) rs777377174 0.00001
NM_201253.3(CRB1):c.14A>G (p.Asn5Ser) rs139427846 0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765 0.00001
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val) rs745464770 0.00001
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu) rs772386716 0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) rs769859765 0.00001
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile) rs1450290360 0.00001
NM_201253.3(CRB1):c.1883T>C (p.Leu628Pro) rs749411741 0.00001
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser) rs1457623741 0.00001
NM_201253.3(CRB1):c.1933G>T (p.Asp645Tyr) rs1218091828 0.00001
NM_201253.3(CRB1):c.1976C>T (p.Ser659Leu) rs986645649 0.00001
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr) rs757381371 0.00001
NM_201253.3(CRB1):c.2303A>G (p.Glu768Gly) rs771264436 0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784 0.00001
NM_201253.3(CRB1):c.2377G>A (p.Val793Ile) rs528781963 0.00001
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser) rs767723282 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.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.276G>C (p.Arg92Ser) rs751678963 0.00001
NM_201253.3(CRB1):c.2821C>A (p.Pro941Thr) rs374914600 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu) rs905306614 0.00001
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) rs62635655 0.00001
NM_201253.3(CRB1):c.3001A>G (p.Ile1001Val) rs1179276987 0.00001
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn) rs769059111 0.00001
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) rs115649214 0.00001
NM_201253.3(CRB1):c.3375T>A (p.Phe1125Leu) rs1226422852 0.00001
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe) rs763011436 0.00001
NM_201253.3(CRB1):c.3440C>T (p.Pro1147Leu) rs1034421454 0.00001
NM_201253.3(CRB1):c.3620C>A (p.Thr1207Asn) rs1334175594 0.00001
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu) rs759022743 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 0.00001
NM_201253.3(CRB1):c.3739A>G (p.Lys1247Glu) rs1222907981 0.00001
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His) rs62636281 0.00001
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met) rs754862028 0.00001
NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala) rs778684885 0.00001
NM_201253.3(CRB1):c.4027G>A (p.Asp1343Asn) rs771181041 0.00001
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr) rs774187022 0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) rs752559648 0.00001
NM_201253.3(CRB1):c.4G>A (p.Ala2Thr) rs1203732030 0.00001
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) rs1658691162 0.00001
NM_201253.3(CRB1):c.559G>A (p.Val187Met) rs774621951 0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) rs1658699227 0.00001
NM_201253.3(CRB1):c.65T>A (p.Ile22Lys) rs762741389 0.00001
NM_201253.3(CRB1):c.707G>A (p.Gly236Asp) rs778322895 0.00001
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn) rs1452822430 0.00001
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn) rs1461964160 0.00001
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg) rs1412048468 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
NC_000001.10:g.(?_197237543)_(197237632_?)dup
NC_000001.10:g.(?_197297532)_(197326163_?)dup
NC_000001.10:g.(?_197297532)_(197447009_?)dup
NC_000001.10:g.(?_197390110)_(197398764_?)dup
NM_201253.3(CRB1):c.1000G>A (p.Ala334Thr) rs2125354252
NM_201253.3(CRB1):c.1005G>T (p.Gln335His)
NM_201253.3(CRB1):c.1010A>G (p.Glu337Gly) rs2125354280
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.1030A>C (p.Asn344His)
NM_201253.3(CRB1):c.1042T>C (p.Cys348Arg) rs2125354412
NM_201253.3(CRB1):c.1048T>C (p.Ser350Pro)
NM_201253.3(CRB1):c.1061G>A (p.Cys354Tyr)
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys) rs116347915
NM_201253.3(CRB1):c.1094G>A (p.Arg365His) rs777528044
NM_201253.3(CRB1):c.1094_1095delinsCT (p.Arg365Pro) rs1660512789
NM_201253.3(CRB1):c.1100C>T (p.Thr367Ile) rs764225776
NM_201253.3(CRB1):c.1109CTT[2] (p.Ser372del)
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro) rs1660514556
NM_201253.3(CRB1):c.1123T>C (p.Tyr375His)
NM_201253.3(CRB1):c.1145T>C (p.Val382Ala)
NM_201253.3(CRB1):c.1183G>A (p.Glu395Lys)
NM_201253.3(CRB1):c.1186G>A (p.Glu396Lys)
NM_201253.3(CRB1):c.1196A>G (p.Asn399Ser)
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
NM_201253.3(CRB1):c.1253A>C (p.Asn418Thr) rs539152735
NM_201253.3(CRB1):c.1258A>G (p.Thr420Ala)
NM_201253.3(CRB1):c.1278T>G (p.Asp426Glu)
NM_201253.3(CRB1):c.1331G>A (p.Gly444Asp)
NM_201253.3(CRB1):c.1334G>A (p.Cys445Tyr)
NM_201253.3(CRB1):c.1337C>A (p.Thr446Asn) rs1215864611
NM_201253.3(CRB1):c.137A>C (p.Lys46Thr)
NM_201253.3(CRB1):c.140A>G (p.Asp47Gly) rs1240979285
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.142T>A (p.Phe48Ile) rs765448599
NM_201253.3(CRB1):c.1447G>C (p.Ala483Pro)
NM_201253.3(CRB1):c.1468G>C (p.Gly490Arg) rs1450685360
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val) rs1664299898
NM_201253.3(CRB1):c.1474G>A (p.Gly492Ser)
NM_201253.3(CRB1):c.1534C>G (p.Leu512Val) rs1664304309
NM_201253.3(CRB1):c.1538G>T (p.Arg513Met) rs1571523673
NM_201253.3(CRB1):c.1544A>T (p.Gln515Leu) rs2125469961
NM_201253.3(CRB1):c.1580G>A (p.Ser527Asn)
NM_201253.3(CRB1):c.1613T>A (p.Leu538Gln) rs1664310357
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
NM_201253.3(CRB1):c.1625T>C (p.Ile542Thr) rs2125470239
NM_201253.3(CRB1):c.1637T>C (p.Ile546Thr) rs1427090221
NM_201253.3(CRB1):c.1661T>G (p.Val554Gly)
NM_201253.3(CRB1):c.1664T>C (p.Leu555Pro)
NM_201253.3(CRB1):c.1685C>T (p.Thr562Ile)
NM_201253.3(CRB1):c.1687A>G (p.Ser563Gly) rs1193275021
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg) rs886043472
NM_201253.3(CRB1):c.1704T>A (p.His568Gln)
NM_201253.3(CRB1):c.1708G>A (p.Val570Met) rs754482666
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.1738C>T (p.Leu580Phe) rs761775378
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.176C>T (p.Thr59Ile) rs1284729199
NM_201253.3(CRB1):c.1775T>C (p.Ile592Thr)
NM_201253.3(CRB1):c.1778C>G (p.Ala593Gly) rs1447630642
NM_201253.3(CRB1):c.1783G>C (p.Ala595Pro) rs752212470
NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser) rs752212470
NM_201253.3(CRB1):c.1786C>A (p.Pro596Thr)
NM_201253.3(CRB1):c.1810T>G (p.Ser604Ala) rs1664329175
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.1852G>A (p.Val618Met) rs1169856523
NM_201253.3(CRB1):c.1873G>A (p.Val625Ile)
NM_201253.3(CRB1):c.1879C>G (p.Leu627Val)
NM_201253.3(CRB1):c.1903T>A (p.Ser635Thr)
NM_201253.3(CRB1):c.1903T>C (p.Ser635Pro)
NM_201253.3(CRB1):c.1922G>T (p.Gly641Val)
NM_201253.3(CRB1):c.1936A>C (p.Ile646Leu) rs757884719
NM_201253.3(CRB1):c.1958T>G (p.Ile653Ser) rs1336674793
NM_201253.3(CRB1):c.1996G>A (p.Val666Ile)
NM_201253.3(CRB1):c.2003C>T (p.Ala668Val)
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser) rs749112809
NM_201253.3(CRB1):c.2036A>C (p.Gln679Pro)
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2057G>A (p.Arg686His) rs1281817527
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser) rs1664351600
NM_201253.3(CRB1):c.2129A>G (p.Glu710Gly) rs145282040
NM_201253.3(CRB1):c.2137G>A (p.Ala713Thr) rs2125483533
NM_201253.3(CRB1):c.2141G>A (p.Gly714Asp) rs2125483555
NM_201253.3(CRB1):c.2158G>A (p.Asp720Asn)
NM_201253.3(CRB1):c.2159A>G (p.Asp720Gly)
NM_201253.3(CRB1):c.2168G>T (p.Gly723Val) rs759961722
NM_201253.3(CRB1):c.2174T>A (p.Val725Asp)
NM_201253.3(CRB1):c.2174T>C (p.Val725Ala)
NM_201253.3(CRB1):c.218C>T (p.Pro73Leu)
NM_201253.3(CRB1):c.2196C>G (p.Ser732Arg)
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu) rs1664651920
NM_201253.3(CRB1):c.2254C>T (p.Leu752Phe) rs2125483936
NM_201253.3(CRB1):c.2272A>G (p.Ser758Gly)
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala) rs1485086776
NM_201253.3(CRB1):c.2278T>A (p.Tyr760Asn) rs2125484022
NM_201253.3(CRB1):c.2288T>A (p.Ile763Asn) rs2125484063
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro) rs62636287
NM_201253.3(CRB1):c.2311A>G (p.Arg771Gly)
NM_201253.3(CRB1):c.2327C>T (p.Thr776Ile) rs1293863321
NM_201253.3(CRB1):c.2329C>G (p.Pro777Ala)
NM_201253.3(CRB1):c.2334C>G (p.Asn778Lys)
NM_201253.3(CRB1):c.2339C>T (p.Pro780Leu)
NM_201253.3(CRB1):c.2344T>G (p.Leu782Val)
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2380C>A (p.His794Asn) rs1294237377
NM_201253.3(CRB1):c.2382C>G (p.His794Gln)
NM_201253.3(CRB1):c.2387T>C (p.Ile796Thr)
NM_201253.3(CRB1):c.238C>G (p.Gln80Glu) rs1658660736
NM_201253.3(CRB1):c.239A>T (p.Gln80Leu) rs1658660906
NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu) rs1558132026
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.2459C>T (p.Ser820Phe)
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn) rs1658661237
NM_201253.3(CRB1):c.2462C>G (p.Thr821Arg) rs142857810
NM_201253.3(CRB1):c.2479G>A (p.Gly827Arg) rs62636269
NM_201253.3(CRB1):c.250A>G (p.Thr84Ala) rs1658661930
NM_201253.3(CRB1):c.2522C>T (p.Thr841Ile) rs2125484956
NM_201253.3(CRB1):c.254G>T (p.Cys85Phe)
NM_201253.3(CRB1):c.2552G>C (p.Cys851Ser)
NM_201253.3(CRB1):c.2557C>A (p.Gln853Lys)
NM_201253.3(CRB1):c.2567G>A (p.Arg856Lys)
NM_201253.3(CRB1):c.2568A>C (p.Arg856Ser)
NM_201253.3(CRB1):c.2582A>C (p.Asn861Thr) rs1664679702
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu) rs1664680830
NM_201253.3(CRB1):c.2612A>G (p.Asn871Ser)
NM_201253.3(CRB1):c.2614G>A (p.Ala872Thr)
NM_201253.3(CRB1):c.2635G>A (p.Val879Ile)
NM_201253.3(CRB1):c.2645C>T (p.Thr882Ile)
NM_201253.3(CRB1):c.2647C>A (p.Gln883Lys) rs2125485481
NM_201253.3(CRB1):c.2651_2652delinsAT (p.Gly884Asp) rs2125485510
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
NM_201253.3(CRB1):c.2676+4A>G
NM_201253.3(CRB1):c.2676+5T>C
NM_201253.3(CRB1):c.2677-13C>A
NM_201253.3(CRB1):c.2683C>A (p.Pro895Thr) rs781635398
NM_201253.3(CRB1):c.2696G>T (p.Gly899Val) rs1254393801
NM_201253.3(CRB1):c.2698G>A (p.Gly900Ser) rs2125488768
NM_201253.3(CRB1):c.2727C>A (p.Phe909Leu)
NM_201253.3(CRB1):c.2779T>C (p.Trp927Arg)
NM_201253.3(CRB1):c.2784T>G (p.Cys928Trp)
NM_201253.3(CRB1):c.2805C>A (p.His935Gln) rs767706271
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)
NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)
NM_201253.3(CRB1):c.2824G>A (p.Val942Met)
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2839G>C (p.Glu947Gln)
NM_201253.3(CRB1):c.2843-4_2843-2del
NM_201253.3(CRB1):c.2849C>T (p.Ala950Val) rs1665039717
NM_201253.3(CRB1):c.2867G>T (p.Gly956Val) rs267598279
NM_201253.3(CRB1):c.2874C>A (p.Ser958Arg) rs372778560
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del) rs62645745
NM_201253.3(CRB1):c.2889C>G (p.Phe963Leu) rs905306614
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile) rs766793013
NM_201253.3(CRB1):c.2914G>C (p.Glu972Gln) rs1665045248
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys) rs1665046846
NM_201253.3(CRB1):c.2939T>A (p.Phe980Tyr) rs1665047363
NM_201253.3(CRB1):c.2939T>G (p.Phe980Cys) rs1665047363
NM_201253.3(CRB1):c.2951A>C (p.Asp984Ala) rs1227467460
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr) rs1571555801
NM_201253.3(CRB1):c.2985G>T (p.Glu995Asp)
NM_201253.3(CRB1):c.298C>T (p.Pro100Ser) rs1404279052
NM_201253.3(CRB1):c.299C>T (p.Pro100Leu) rs2125304021
NM_201253.3(CRB1):c.3007A>G (p.Ile1003Val)
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe) rs910299744
NM_201253.3(CRB1):c.3014A>G (p.Asp1005Gly) rs369184026
NM_201253.3(CRB1):c.3041G>A (p.Ser1014Asn)
NM_201253.3(CRB1):c.3049A>G (p.Ser1017Gly) rs2125499301
NM_201253.3(CRB1):c.3085G>A (p.Val1029Met) rs757383417
NM_201253.3(CRB1):c.308G>T (p.Ser103Ile) rs116254396
NM_201253.3(CRB1):c.3098C>T (p.Thr1033Ile)
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) rs1665062132
NM_201253.3(CRB1):c.3106G>A (p.Glu1036Lys)
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) rs1665065652
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
NM_201253.3(CRB1):c.316A>C (p.Ile106Leu)
NM_201253.3(CRB1):c.3173A>G (p.Glu1058Gly)
NM_201253.3(CRB1):c.3179C>T (p.Pro1060Leu)
NM_201253.3(CRB1):c.3183T>A (p.Phe1061Leu)
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.3209G>T (p.Ser1070Ile) rs1665074618
NM_201253.3(CRB1):c.320G>T (p.Cys107Phe)
NM_201253.3(CRB1):c.3211C>T (p.Leu1071Phe) rs398124614
NM_201253.3(CRB1):c.3224A>C (p.Lys1075Thr) rs2125499800
NM_201253.3(CRB1):c.3232A>G (p.Thr1078Ala)
NM_201253.3(CRB1):c.3256G>T (p.Ala1086Ser) rs2125499915
NM_201253.3(CRB1):c.3274G>A (p.Gly1092Ser) rs1402562231
NM_201253.3(CRB1):c.3282A>C (p.Gln1094His)
NM_201253.3(CRB1):c.3282A>T (p.Gln1094His) rs752719776
NM_201253.3(CRB1):c.328A>G (p.Thr110Ala)
NM_201253.3(CRB1):c.3304A>G (p.Ile1102Val)
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg) rs779253997
NM_201253.3(CRB1):c.3373T>C (p.Phe1125Leu)
NM_201253.3(CRB1):c.338C>T (p.Ser113Phe)
NM_201253.3(CRB1):c.3398T>C (p.Val1133Ala)
NM_201253.3(CRB1):c.3406G>A (p.Gly1136Ser)
NM_201253.3(CRB1):c.3427T>C (p.Cys1143Arg)
NM_201253.3(CRB1):c.3466G>A (p.Asp1156Asn)
NM_201253.3(CRB1):c.3473A>G (p.Tyr1158Cys) rs2125500588
NM_201253.3(CRB1):c.3482A>G (p.Tyr1161Cys) rs1414707912
NM_201253.3(CRB1):c.3485A>G (p.His1162Arg) rs2125500617
NM_201253.3(CRB1):c.3491C>T (p.Ser1164Phe) rs761492989
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3521G>A (p.Cys1174Tyr) rs1665102302
NM_201253.3(CRB1):c.3526C>T (p.Leu1176Phe)
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
NM_201253.3(CRB1):c.3538G>A (p.Glu1180Lys)
NM_201253.3(CRB1):c.353C>T (p.Ser118Phe)
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly) rs1658671611
NM_201253.3(CRB1):c.3563A>G (p.His1188Arg) rs1665105838
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln) rs376271122
NM_201253.3(CRB1):c.3583G>T (p.Val1195Phe) rs1558138977
NM_201253.3(CRB1):c.3596A>G (p.His1199Arg)
NM_201253.3(CRB1):c.3617A>T (p.Tyr1206Phe)
NM_201253.3(CRB1):c.3623G>T (p.Gly1208Val)
NM_201253.3(CRB1):c.3631T>A (p.Cys1211Ser)
NM_201253.3(CRB1):c.3643A>G (p.Ile1215Val) rs753102573
NM_201253.3(CRB1):c.3647A>G (p.Asp1216Gly) rs2125501023
NM_201253.3(CRB1):c.3679G>A (p.Ala1227Thr)
NM_201253.3(CRB1):c.3698C>T (p.Thr1233Ile) rs1665116355
NM_201253.3(CRB1):c.370A>T (p.Ile124Phe)
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3729T>G (p.Asn1243Lys)
NM_201253.3(CRB1):c.3749+5G>A
NM_201253.3(CRB1):c.3773T>G (p.Val1258Gly) rs2125506192
NM_201253.3(CRB1):c.377A>G (p.His126Arg) rs1300735825
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys) rs1007094417
NM_201253.3(CRB1):c.3785A>G (p.Glu1262Gly)
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3840A>T (p.Glu1280Asp)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) rs1665279435
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
NM_201253.3(CRB1):c.3881G>T (p.Cys1294Phe) rs754575460
NM_201253.3(CRB1):c.3917G>A (p.Cys1306Tyr) rs2125513658
NM_201253.3(CRB1):c.3923A>G (p.Asn1308Ser) rs747631811
NM_201253.3(CRB1):c.3928G>A (p.Gly1310Ser) rs1411240510
NM_201253.3(CRB1):c.3929G>C (p.Gly1310Ala) rs778373995
NM_201253.3(CRB1):c.3947T>G (p.Leu1316Arg)
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup) rs750573216
NM_201253.3(CRB1):c.3987C>T (p.Gly1329=)
NM_201253.3(CRB1):c.4005C>T (p.Asp1335=)
NM_201253.3(CRB1):c.4006-18T>G rs2125573687
NM_201253.3(CRB1):c.4009G>A (p.Ala1337Thr)
NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu)
NM_201253.3(CRB1):c.4046G>A (p.Gly1349Asp) rs761584516
NM_201253.3(CRB1):c.405C>G (p.Ile135Met)
NM_201253.3(CRB1):c.407G>T (p.Cys136Phe) rs752559648
NM_201253.3(CRB1):c.40C>T (p.Leu14Phe)
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn) rs1667262233
NM_201253.3(CRB1):c.4136A>C (p.Tyr1379Ser) rs1571645532
NM_201253.3(CRB1):c.413C>A (p.Ala138Asp)
NM_201253.3(CRB1):c.4140C>A (p.Ser1380Arg)
NM_201253.3(CRB1):c.4147C>G (p.Arg1383Gly)
NM_201253.3(CRB1):c.4148G>T (p.Arg1383Leu)
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
NM_201253.3(CRB1):c.4153G>C (p.Glu1385Gln)
NM_201253.3(CRB1):c.4160A>C (p.Glu1387Ala)
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.4163G>T (p.Gly1388Val) rs765740058
NM_201253.3(CRB1):c.4166C>T (p.Ser1389Phe) rs775906215
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro) rs764581378
NM_201253.3(CRB1):c.416G>T (p.Gly139Val)
NM_201253.3(CRB1):c.4171G>C (p.Val1391Leu)
NM_201253.3(CRB1):c.4172T>G (p.Val1391Gly)
NM_201253.3(CRB1):c.4196C>T (p.Pro1399Leu) rs1261177913
NM_201253.3(CRB1):c.4202C>A (p.Ala1401Glu)
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) rs767920858
NM_201253.3(CRB1):c.4219T>C (p.Ter1407Gln) rs1667270315
NM_201253.3(CRB1):c.439A>G (p.Ile147Val) rs2125304346
NM_201253.3(CRB1):c.448G>A (p.Asp150Asn)
NM_201253.3(CRB1):c.467C>T (p.Pro156Leu) rs1420941782
NM_201253.3(CRB1):c.470G>A (p.Cys157Tyr) rs2125304430
NM_201253.3(CRB1):c.478G>T (p.Gly160Trp)
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) rs1064797126
NM_201253.3(CRB1):c.487T>G (p.Cys163Gly) rs2125304485
NM_201253.3(CRB1):c.491A>G (p.Gln164Arg) rs952354514
NM_201253.3(CRB1):c.502G>T (p.Asp168Tyr) rs773457531
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys) rs763841981
NM_201253.3(CRB1):c.515G>T (p.Cys172Phe) rs756931963
NM_201253.3(CRB1):c.521G>C (p.Cys174Ser)
NM_201253.3(CRB1):c.526C>T (p.Pro176Ser)
NM_201253.3(CRB1):c.532T>C (p.Tyr178His)
NM_201253.3(CRB1):c.550G>A (p.Asp184Asn)
NM_201253.3(CRB1):c.551A>G (p.Asp184Gly)
NM_201253.3(CRB1):c.578A>G (p.Asp193Gly)
NM_201253.3(CRB1):c.579T>A (p.Asp193Glu)
NM_201253.3(CRB1):c.592G>A (p.Glu198Lys) rs1658694943
NM_201253.3(CRB1):c.604C>T (p.Leu202Phe)
NM_201253.3(CRB1):c.616G>A (p.Gly206Arg)
NM_201253.3(CRB1):c.629G>A (p.Cys210Tyr)
NM_201253.3(CRB1):c.62A>G (p.Tyr21Cys)
NM_201253.3(CRB1):c.635G>C (p.Cys212Ser)
NM_201253.3(CRB1):c.666A>T (p.Glu222Asp) rs1659641198
NM_201253.3(CRB1):c.677A>C (p.Asp226Ala)
NM_201253.3(CRB1):c.683G>A (p.Cys228Tyr) rs1163013240
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg) rs978649523
NM_201253.3(CRB1):c.698G>A (p.Cys233Tyr)
NM_201253.3(CRB1):c.757G>A (p.Gly253Arg)
NM_201253.3(CRB1):c.769G>T (p.Asp257Tyr) rs2125328452
NM_201253.3(CRB1):c.774C>A (p.His258Gln) rs2125328459
NM_201253.3(CRB1):c.775T>C (p.Cys259Arg)
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.805C>A (p.Gln269Lys)
NM_201253.3(CRB1):c.809C>G (p.Pro270Arg) rs1659652337
NM_201253.3(CRB1):c.817C>T (p.His273Tyr)
NM_201253.3(CRB1):c.823G>A (p.Gly275Arg)
NM_201253.3(CRB1):c.830G>A (p.Cys277Tyr)
NM_201253.3(CRB1):c.833T>C (p.Val278Ala)
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu) rs930465675
NM_201253.3(CRB1):c.848+4C>G rs1659656136
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg) rs1571877872
NM_201253.3(CRB1):c.866C>A (p.Thr289Lys)
NM_201253.3(CRB1):c.872G>T (p.Ser291Ile) rs1374962600
NM_201253.3(CRB1):c.875G>T (p.Gly292Val)
NM_201253.3(CRB1):c.889C>T (p.His297Tyr)
NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del)
NM_201253.3(CRB1):c.926C>G (p.Pro309Arg)
NM_201253.3(CRB1):c.955A>C (p.Ser319Arg)
NM_201253.3(CRB1):c.964A>G (p.Asn322Asp) rs942572644
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly) rs1452416023
NM_201253.3(CRB1):c.982T>C (p.Trp328Arg)
NM_201253.3(CRB1):c.987T>C (p.Pro329=) rs754038973

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