ClinVar Miner

List of variants reported as uncertain significance for retinal disorder by All of Us Research Program, National Institutes of Health

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 250
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) rs187912365 0.00051
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr) rs587778640 0.00004
NM_000321.3(RB1):c.1619G>T (p.Gly540Val) rs769696726 0.00004
NM_000321.3(RB1):c.941T>A (p.Val314Asp) rs780006952 0.00004
NM_000321.3(RB1):c.1814+3A>G rs376886420 0.00003
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys) rs143105337 0.00003
NM_000321.3(RB1):c.80C>G (p.Pro27Arg) rs925399787 0.00003
NM_000321.3(RB1):c.-1C>T rs754354560 0.00002
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys) rs1060503078 0.00002
NM_000321.3(RB1):c.2491A>G (p.Ile831Val) rs761068783 0.00002
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786 0.00002
NM_000321.3(RB1):c.354T>A (p.Thr118=) rs951251256 0.00002
NM_000321.3(RB1):c.608-7T>G rs746360576 0.00002
NM_000321.3(RB1):c.761G>A (p.Arg254Lys) rs200674097 0.00002
NM_000321.3(RB1):c.897T>A (p.Phe299Leu) rs772362181 0.00002
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser) rs751263356 0.00001
NM_000321.3(RB1):c.104A>T (p.Gln35Leu) rs1480581747 0.00001
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln) rs767011440 0.00001
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser) rs1470523018 0.00001
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser) rs373623059 0.00001
NM_000321.3(RB1):c.116C>T (p.Pro39Leu) rs1180053508 0.00001
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) rs181988132 0.00001
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu) rs748635133 0.00001
NM_000321.3(RB1):c.1334G>A (p.Arg445Gln) rs747509282 0.00001
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys) rs759079385 0.00001
NM_000321.3(RB1):c.1364G>A (p.Arg455Gln) rs769425649 0.00001
NM_000321.3(RB1):c.1463C>T (p.Ala488Val) rs780248969 0.00001
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser) rs1366675428 0.00001
NM_000321.3(RB1):c.148G>C (p.Glu50Gln) rs1060503085 0.00001
NM_000321.3(RB1):c.1505C>T (p.Thr502Ile) rs752334972 0.00001
NM_000321.3(RB1):c.161A>G (p.Glu54Gly) rs1952089249 0.00001
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln) rs146236493 0.00001
NM_000321.3(RB1):c.1681C>T (p.Leu561Phe) rs761257231 0.00001
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg) rs375645171 0.00001
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr) rs1343212063 0.00001
NM_000321.3(RB1):c.1778A>G (p.Asn593Ser) rs138033832 0.00001
NM_000321.3(RB1):c.1815G>A (p.Met605Ile) rs1472724809 0.00001
NM_000321.3(RB1):c.1840A>G (p.Lys614Glu) rs751060248 0.00001
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser) rs1007286459 0.00001
NM_000321.3(RB1):c.2066A>G (p.Gln689Arg) rs1447082021 0.00001
NM_000321.3(RB1):c.2078A>G (p.Glu693Gly) rs775195256 0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) rs3092903 0.00001
NM_000321.3(RB1):c.2107-15C>A rs762781001 0.00001
NM_000321.3(RB1):c.2186A>C (p.Lys729Thr) rs150600740 0.00001
NM_000321.3(RB1):c.2198A>T (p.His733Leu) rs778503152 0.00001
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser) rs1167280920 0.00001
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00001
NM_000321.3(RB1):c.238A>G (p.Lys80Glu) rs751870680 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.2521-7T>A rs371150038 0.00001
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu) rs1566240957 0.00001
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr) rs764140783 0.00001
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr) rs762380973 0.00001
NM_000321.3(RB1):c.424A>G (p.Thr142Ala) rs1307149332 0.00001
NM_000321.3(RB1):c.536G>T (p.Ser179Ile) rs1566187849 0.00001
NM_000321.3(RB1):c.560C>T (p.Ser187Phe) rs770277291 0.00001
NM_000321.3(RB1):c.694C>T (p.Pro232Ser) rs1195873978 0.00001
NM_000321.3(RB1):c.697A>G (p.Met233Val) rs770860809 0.00001
NM_000321.3(RB1):c.73C>T (p.Pro25Ser) rs1566174119 0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) rs772678500 0.00001
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144 0.00001
NM_000321.3(RB1):c.861+6T>C rs373380507 0.00001
NM_000321.3(RB1):c.898A>C (p.Met300Leu) rs1060503086 0.00001
NM_000321.3(RB1):c.89A>C (p.Glu30Ala) rs1482284498 0.00001
NM_000321.3(RB1):c.965A>G (p.Glu322Gly) rs142620145 0.00001
NC_000013.11:g.48303714C>T
NM_000321.3(RB1):c.-2T>G rs1466986201
NM_000321.3(RB1):c.1010T>C (p.Leu337Ser)
NM_000321.3(RB1):c.1037A>G (p.Asp346Gly)
NM_000321.3(RB1):c.1039T>C (p.Ser347Pro)
NM_000321.3(RB1):c.103C>G (p.Gln35Glu)
NM_000321.3(RB1):c.1066A>C (p.Thr356Pro) rs2138123180
NM_000321.3(RB1):c.111C>A (p.Ser37Arg)
NM_000321.3(RB1):c.112G>A (p.Gly38Ser)
NM_000321.3(RB1):c.1160T>C (p.Met387Thr) rs767908749
NM_000321.3(RB1):c.1161G>T (p.Met387Ile)
NM_000321.3(RB1):c.1178G>A (p.Ser393Asn)
NM_000321.3(RB1):c.1215+6C>A
NM_000321.3(RB1):c.1291G>A (p.Ala431Thr) rs965729205
NM_000321.3(RB1):c.1294A>G (p.Lys432Glu)
NM_000321.3(RB1):c.130C>G (p.Leu44Val) rs1345893304
NM_000321.3(RB1):c.1313G>A (p.Cys438Tyr) rs1952832267
NM_000321.3(RB1):c.133_135del (p.Val45del)
NM_000321.3(RB1):c.1340A>G (p.Lys447Arg)
NM_000321.3(RB1):c.1348G>T (p.Val450Phe)
NM_000321.3(RB1):c.1352G>A (p.Arg451His) rs1312442837
NM_000321.3(RB1):c.1363C>A (p.Arg455=)
NM_000321.3(RB1):c.137+6C>T rs1273298763
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.1390_1392GAA[2] (p.Glu466del) rs1948519753
NM_000321.3(RB1):c.1393G>A (p.Glu465Lys)
NM_000321.3(RB1):c.13A>C (p.Thr5Pro) rs898303682
NM_000321.3(RB1):c.1410T>G (p.Ile470Met) rs578226820
NM_000321.3(RB1):c.1412A>G (p.Gln471Arg) rs1948520103
NM_000321.3(RB1):c.1422-12T>G
NM_000321.3(RB1):c.1436A>G (p.Asp479Gly) rs2138142793
NM_000321.3(RB1):c.1450A>G (p.Met484Val)
NM_000321.3(RB1):c.1453T>C (p.Ser485Pro) rs1948522903
NM_000321.3(RB1):c.1462G>A (p.Ala488Thr)
NM_000321.3(RB1):c.1468G>T (p.Ala490Ser) rs201458896
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn) rs774706300
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr) rs1948533141
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro)
NM_000321.3(RB1):c.153A>C (p.Glu51Asp) rs756860689
NM_000321.3(RB1):c.1543C>T (p.Pro515Ser) rs866664638
NM_000321.3(RB1):c.1581T>A (p.Asp527Glu) rs1336947639
NM_000321.3(RB1):c.158A>C (p.Glu53Ala)
NM_000321.3(RB1):c.1596C>G (p.Ile532Met)
NM_000321.3(RB1):c.159A>C (p.Glu53Asp)
NM_000321.3(RB1):c.1663C>T (p.His555Tyr) rs772222746
NM_000321.3(RB1):c.1678T>A (p.Ser560Thr)
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu) rs1593529910
NM_000321.3(RB1):c.172A>G (p.Thr58Ala) rs1593414365
NM_000321.3(RB1):c.1735C>G (p.Arg579Gly)
NM_000321.3(RB1):c.175G>A (p.Ala59Thr)
NM_000321.3(RB1):c.1763C>T (p.Ser588Phe) rs1555293637
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly) rs779045727
NM_000321.3(RB1):c.1768T>G (p.Cys590Gly) rs1060503089
NM_000321.3(RB1):c.1783C>T (p.Pro595Ser) rs1949338684
NM_000321.3(RB1):c.1789C>A (p.Gln597Lys) rs1566233076
NM_000321.3(RB1):c.1814T>C (p.Met605Thr) rs1555293654
NM_000321.3(RB1):c.1828G>A (p.Val610Ile)
NM_000321.3(RB1):c.1829T>C (p.Val610Ala) rs934931283
NM_000321.3(RB1):c.1833A>G (p.Arg611=)
NM_000321.3(RB1):c.1849G>C (p.Gly617Arg)
NM_000321.3(RB1):c.1883C>T (p.Ala628Val) rs1329826610
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu) rs1949359489
NM_000321.3(RB1):c.1918A>C (p.Lys640Gln)
NM_000321.3(RB1):c.1945C>G (p.Leu649Val)
NM_000321.3(RB1):c.1960+6T>C
NM_000321.3(RB1):c.1961T>G (p.Val654Gly)
NM_000321.3(RB1):c.1963T>G (p.Tyr655Asp)
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile) rs749739772
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg) rs1949383921
NM_000321.3(RB1):c.2016G>C (p.Glu672Asp)
NM_000321.3(RB1):c.2018A>G (p.His673Arg)
NM_000321.3(RB1):c.2035A>G (p.Ile679Val) rs897199998
NM_000321.3(RB1):c.2108T>C (p.Ile703Thr)
NM_000321.3(RB1):c.2186A>G (p.Lys729Arg) rs150600740
NM_000321.3(RB1):c.2198A>G (p.His733Arg) rs778503152
NM_000321.3(RB1):c.2213C>A (p.Thr738Lys)
NM_000321.3(RB1):c.2232C>G (p.Ile744Met)
NM_000321.3(RB1):c.2235AGA[1] (p.Glu748del)
NM_000321.3(RB1):c.2246A>C (p.Tyr749Ser)
NM_000321.3(RB1):c.2260G>C (p.Val754Leu) rs587778642
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys) rs2138344904
NM_000321.3(RB1):c.2299A>G (p.Asn767Asp)
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile) rs1593539364
NM_000321.3(RB1):c.2345T>C (p.Ile782Thr) rs1949432262
NM_000321.3(RB1):c.2346A>G (p.Ile782Met)
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg) rs777670056
NM_000321.3(RB1):c.2389T>G (p.Leu797Val)
NM_000321.3(RB1):c.2396T>A (p.Ile799Asn)
NM_000321.3(RB1):c.2398C>A (p.Pro800Thr)
NM_000321.3(RB1):c.2398C>T (p.Pro800Ser) rs1949432999
NM_000321.3(RB1):c.2431A>G (p.Ser811Gly) rs1371240619
NM_000321.3(RB1):c.2441A>C (p.Lys814Thr) rs1566237785
NM_000321.3(RB1):c.2467A>G (p.Thr823Ala)
NM_000321.3(RB1):c.2485T>A (p.Ser829Thr) rs2138346264
NM_000321.3(RB1):c.2490-10_2490-6del rs1224162129
NM_000321.3(RB1):c.24A>C (p.Lys8Asn)
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)
NM_000321.3(RB1):c.2518G>C (p.Gly840Arg) rs374157786
NM_000321.3(RB1):c.2520+3G>A rs868434367
NM_000321.3(RB1):c.2539A>C (p.Lys847Gln)
NM_000321.3(RB1):c.2539A>G (p.Lys847Glu) rs2138358973
NM_000321.3(RB1):c.2557T>G (p.Cys853Gly) rs1295589257
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr) rs149359120
NM_000321.3(RB1):c.25A>C (p.Thr9Pro)
NM_000321.3(RB1):c.2603C>T (p.Pro868Leu) rs769539980
NM_000321.3(RB1):c.2627G>A (p.Arg876His) rs767232453
NM_000321.3(RB1):c.2641G>C (p.Gly881Arg)
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro)
NM_000321.3(RB1):c.2683T>A (p.Ser895Thr)
NM_000321.3(RB1):c.2684C>G (p.Ser895Cys)
NM_000321.3(RB1):c.2712G>T (p.Met904Ile) rs1461167778
NM_000321.3(RB1):c.2714C>T (p.Thr905Ile)
NM_000321.3(RB1):c.2729G>A (p.Arg910Gln) rs1360367329
NM_000321.3(RB1):c.2735A>G (p.Gln912Arg) rs1949528429
NM_000321.3(RB1):c.2747T>C (p.Met916Thr)
NM_000321.3(RB1):c.2765C>T (p.Thr922Ile)
NM_000321.3(RB1):c.2779G>C (p.Glu927Gln) rs1949528826
NM_000321.3(RB1):c.2781G>T (p.Glu927Asp)
NM_000321.3(RB1):c.299G>C (p.Gly100Ala) rs886050268
NM_000321.3(RB1):c.317C>A (p.Ala106Glu)
NM_000321.3(RB1):c.31G>A (p.Ala11Thr)
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
NM_000321.3(RB1):c.339G>A (p.Met113Ile) rs1593434250
NM_000321.3(RB1):c.34_36dup (p.Thr12_Ala13insThr)
NM_000321.3(RB1):c.34_42del (p.9TAA[1]) rs759465865
NM_000321.3(RB1):c.393C>A (p.Phe131Leu) rs749495284
NM_000321.3(RB1):c.433G>T (p.Asp145Tyr)
NM_000321.3(RB1):c.443T>A (p.Met148Lys)
NM_000321.3(RB1):c.451C>G (p.Leu151Val)
NM_000321.3(RB1):c.458A>G (p.Lys153Arg)
NM_000321.3(RB1):c.459G>C (p.Lys153Asn) rs773642334
NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup) rs1173330253
NM_000321.3(RB1):c.474G>C (p.Leu158Phe) rs1319691084
NM_000321.3(RB1):c.487A>G (p.Ser163Gly)
NM_000321.3(RB1):c.48CGC[4] (p.Ala18_Glu19insAlaAla)
NM_000321.3(RB1):c.500G>A (p.Arg167Lys)
NM_000321.3(RB1):c.501-5T>C
NM_000321.3(RB1):c.505T>C (p.Cys169Arg)
NM_000321.3(RB1):c.509A>G (p.Glu170Gly)
NM_000321.3(RB1):c.515T>C (p.Ile172Thr) rs1952511717
NM_000321.3(RB1):c.529C>T (p.Pro177Ser) rs1357310270
NM_000321.3(RB1):c.530C>T (p.Pro177Leu)
NM_000321.3(RB1):c.531CAG[1] (p.Ser180del)
NM_000321.3(RB1):c.539+1G>T
NM_000321.3(RB1):c.545C>T (p.Ser182Phe)
NM_000321.3(RB1):c.552A>C (p.Glu184Asp) rs1220347917
NM_000321.3(RB1):c.589A>G (p.Thr197Ala) rs1421476380
NM_000321.3(RB1):c.58C>T (p.Pro20Ser)
NM_000321.3(RB1):c.590C>T (p.Thr197Ile)
NM_000321.3(RB1):c.607+4A>G
NM_000321.3(RB1):c.607G>T (p.Gly203Trp) rs1012377281
NM_000321.3(RB1):c.616T>A (p.Leu206Ile)
NM_000321.3(RB1):c.62C>G (p.Pro21Arg) rs1444353743
NM_000321.3(RB1):c.658C>A (p.Leu220Ile)
NM_000321.3(RB1):c.674A>G (p.Tyr225Cys) rs771567627
NM_000321.3(RB1):c.67C>T (p.Pro23Ser) rs1349657979
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del) rs587778823
NM_000321.3(RB1):c.708A>T (p.Lys236Asn)
NM_000321.3(RB1):c.722C>T (p.Thr241Ile) rs1593445085
NM_000321.3(RB1):c.724G>A (p.Ala242Thr)
NM_000321.3(RB1):c.739A>G (p.Asn247Asp) rs1429451823
NM_000321.3(RB1):c.74C>T (p.Pro25Leu) rs1593412158
NM_000321.3(RB1):c.760A>G (p.Arg254Gly) rs2138112300
NM_000321.3(RB1):c.766G>C (p.Gly256Arg)
NM_000321.3(RB1):c.770A>G (p.Gln257Arg) rs1232080974
NM_000321.3(RB1):c.797A>G (p.Gln266Arg)
NM_000321.3(RB1):c.79C>T (p.Pro27Ser) rs1309325353
NM_000321.3(RB1):c.809A>T (p.Asp270Val)
NM_000321.3(RB1):c.83C>T (p.Pro28Leu) rs776175164
NM_000321.3(RB1):c.842A>G (p.His281Arg)
NM_000321.3(RB1):c.879C>A (p.Phe293Leu) rs775381228
NM_000321.3(RB1):c.881A>C (p.Lys294Thr) rs1453047397
NM_000321.3(RB1):c.889A>T (p.Ile297Leu) rs1286975378
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000321.3(RB1):c.916G>A (p.Val306Ile)
NM_000321.3(RB1):c.926A>G (p.Asn309Ser) rs1952680701
NM_000321.3(RB1):c.931C>T (p.Leu311Phe)
NM_000321.3(RB1):c.940-10_940-9del rs774207778
NM_000321.3(RB1):c.941T>C (p.Val314Ala)
NM_000321.3(RB1):c.94G>A (p.Asp32Asn) rs1593412219
NM_000321.3(RB1):c.959G>T (p.Arg320Leu) rs760787104
NM_000321.3(RB1):c.976C>T (p.Leu326Phe) rs1566194351
NM_000321.3(RB1):c.991C>G (p.Leu331Val)

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