ClinVar Miner

List of variants studied for Retinoblastoma by All of Us Research Program, National Institutes of Health

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 508
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.862-15C>A rs115108608 0.00442
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_000321.3(RB1):c.1632A>G (p.Arg544=) rs143948310 0.00245
NM_000321.3(RB1):c.42C>T (p.Ala14=) rs148980395 0.00162
NM_000321.3(RB1):c.52G>T (p.Ala18Ser) rs528218090 0.00076
NM_000321.3(RB1):c.1770T>C (p.Cys590=) rs145310579 0.00062
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000321.3(RB1):c.1707A>G (p.Leu569=) rs3092895 0.00052
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) rs187912365 0.00051
NM_000321.3(RB1):c.1140C>T (p.Asn380=) rs117865557 0.00029
NM_000321.3(RB1):c.540-14T>C rs140706037 0.00022
NM_000321.3(RB1):c.1491A>T (p.Thr497=) rs150115447 0.00015
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys) rs4151534 0.00014
NM_000321.3(RB1):c.2463A>G (p.Thr821=) rs370088029 0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.2714-11C>T rs764362157 0.00010
NM_000321.3(RB1):c.1467C>T (p.Cys489=) rs141608408 0.00007
NM_000321.3(RB1):c.1764T>A (p.Ser588=) rs542783532 0.00006
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000321.3(RB1):c.285A>G (p.Lys95=) rs755688480 0.00006
NM_000321.3(RB1):c.180A>G (p.Leu60=) rs878853948 0.00005
NM_000321.3(RB1):c.2652A>C (p.Glu884Asp) rs765537411 0.00005
NM_000321.3(RB1):c.840A>G (p.Glu280=) rs762092062 0.00005
NM_000321.3(RB1):c.106G>A (p.Asp36Asn) rs745822791 0.00004
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.1696-13A>G rs759198467 0.00004
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp) rs367668687 0.00004
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys) rs529366765 0.00004
NM_000321.3(RB1):c.2754T>C (p.Asp918=) rs878853951 0.00004
NM_000321.3(RB1):c.462G>A (p.Lys154=) rs369830657 0.00004
NM_000321.3(RB1):c.731T>C (p.Ile244Thr) rs147754935 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.2344A>G (p.Ile782Val) rs1283644725 0.00003
NM_000321.3(RB1):c.2521-9A>C rs949077145 0.00003
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys) rs143105337 0.00003
NM_000321.3(RB1):c.2679A>G (p.Gly893=) rs751718011 0.00003
NM_000321.3(RB1):c.30C>G (p.Ala10=) rs530961288 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.1464G>A (p.Ala488=) rs753520981 0.00002
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile) rs587778641 0.00002
NM_000321.3(RB1):c.2370C>T (p.Tyr790=) rs794727372 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.2664-9A>C rs369154092 0.00002
NM_000321.3(RB1):c.2670T>C (p.His890=) rs758547395 0.00002
NM_000321.3(RB1):c.2714-7T>C rs751697681 0.00002
NM_000321.3(RB1):c.2778A>C (p.Glu926Asp) rs1433767914 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.850A>G (p.Asn284Asp) rs761609284 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.1050-11T>C rs201410490 0.00001
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln) rs767011440 0.00001
NM_000321.3(RB1):c.1095G>C (p.Glu365Asp) rs750094760 0.00001
NM_000321.3(RB1):c.1128-6C>T rs1566196389 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.1216-6C>T rs1453083586 0.00001
NM_000321.3(RB1):c.1216-7C>T rs563642809 0.00001
NM_000321.3(RB1):c.1223C>T (p.Thr408Ile) rs1462238834 0.00001
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu) rs748635133 0.00001
NM_000321.3(RB1):c.1323T>C (p.Ile441=) rs1952832419 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.1389A>G (p.Ser463=) rs1486168292 0.00001
NM_000321.3(RB1):c.1408A>C (p.Ile470Leu) rs139960834 0.00001
NM_000321.3(RB1):c.144G>A (p.Glu48=) rs1021965284 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.1494T>C (p.Tyr498=) rs768929728 0.00001
NM_000321.3(RB1):c.14C>T (p.Thr5Ile) rs1265159988 0.00001
NM_000321.3(RB1):c.1505C>T (p.Thr502Ile) rs752334972 0.00001
NM_000321.3(RB1):c.1542C>T (p.Phe514=) rs1436921535 0.00001
NM_000321.3(RB1):c.1596C>T (p.Ile532=) rs770728170 0.00001
NM_000321.3(RB1):c.1617A>C (p.Glu539Asp) rs371031574 0.00001
NM_000321.3(RB1):c.161A>G (p.Glu54Gly) rs1952089249 0.00001
NM_000321.3(RB1):c.1648T>C (p.Leu550=) rs1280754489 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.1736G>A (p.Arg579Gln) rs751560923 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.177A>T (p.Ala59=) rs189574280 0.00001
NM_000321.3(RB1):c.1815-13T>C rs1285467120 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.1860G>A (p.Thr620=) rs750356534 0.00001
NM_000321.3(RB1):c.1982G>A (p.Arg661Gln) rs750578651 0.00001
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser) rs1007286459 0.00001
NM_000321.3(RB1):c.1992A>T (p.Thr664=) rs755417160 0.00001
NM_000321.3(RB1):c.201A>C (p.Pro67=) rs1268550381 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.2107-12T>C rs1399272353 0.00001
NM_000321.3(RB1):c.2107-13A>C rs773509289 0.00001
NM_000321.3(RB1):c.2107-15C>A rs762781001 0.00001
NM_000321.3(RB1):c.2127T>C (p.Tyr709=) rs1484231598 0.00001
NM_000321.3(RB1):c.2175A>G (p.Val725=) rs1339244165 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.2277C>T (p.Val759=) rs1949430859 0.00001
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser) rs1167280920 0.00001
NM_000321.3(RB1):c.2290C>G (p.Leu764Val) rs138637932 0.00001
NM_000321.3(RB1):c.2349T>A (p.Pro783=) rs753349760 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.2436A>G (p.Pro812=) rs1276641790 0.00001
NM_000321.3(RB1):c.2517C>T (p.Phe839=) rs759188465 0.00001
NM_000321.3(RB1):c.2521-7T>A rs371150038 0.00001
NM_000321.3(RB1):c.2559T>C (p.Cys853=) rs148327780 0.00001
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu) rs1566240957 0.00001
NM_000321.3(RB1):c.2602C>A (p.Pro868Thr) rs1161450606 0.00001
NM_000321.3(RB1):c.2607T>G (p.Pro869=) rs762588468 0.00001
NM_000321.3(RB1):c.2625A>G (p.Leu875=) rs774463152 0.00001
NM_000321.3(RB1):c.2634T>C (p.Asp878=) rs750293921 0.00001
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr) rs764140783 0.00001
NM_000321.3(RB1):c.265-6_265-4del rs780733860 0.00001
NM_000321.3(RB1):c.2694G>T (p.Gln898His) rs757275103 0.00001
NM_000321.3(RB1):c.2714-10C>T rs1060504825 0.00001
NM_000321.3(RB1):c.272A>G (p.Tyr91Cys) rs750850735 0.00001
NM_000321.3(RB1):c.273T>C (p.Tyr91=) rs750136284 0.00001
NM_000321.3(RB1):c.341C>T (p.Ser114Leu) rs139673557 0.00001
NM_000321.3(RB1):c.342G>A (p.Ser114=) rs748093967 0.00001
NM_000321.3(RB1):c.381-11T>C rs756363252 0.00001
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr) rs762380973 0.00001
NM_000321.3(RB1):c.399C>T (p.Asn133=) rs765277265 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.539C>T (p.Ser180Leu) rs367654488 0.00001
NM_000321.3(RB1):c.549T>C (p.Thr183=) rs147793910 0.00001
NM_000321.3(RB1):c.560C>T (p.Ser187Phe) rs770277291 0.00001
NM_000321.3(RB1):c.571C>T (p.Leu191=) rs538578527 0.00001
NM_000321.3(RB1):c.608-11T>C rs1158572664 0.00001
NM_000321.3(RB1):c.608-13A>T rs751643356 0.00001
NM_000321.3(RB1):c.634C>A (p.Leu212Met) rs147085238 0.00001
NM_000321.3(RB1):c.658C>T (p.Leu220=) rs367960214 0.00001
NM_000321.3(RB1):c.685C>T (p.Leu229Phe) rs766131342 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.6G>T (p.Pro2=) rs1593411898 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.782C>T (p.Ala261Val) rs776307088 0.00001
NM_000321.3(RB1):c.783A>G (p.Ala261=) rs759311626 0.00001
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144 0.00001
NM_000321.3(RB1):c.78G>C (p.Pro26=) rs1389899415 0.00001
NM_000321.3(RB1):c.813A>G (p.Thr271=) rs1264516748 0.00001
NM_000321.3(RB1):c.83C>G (p.Pro28Arg) rs776175164 0.00001
NM_000321.3(RB1):c.861+6T>C rs373380507 0.00001
NM_000321.3(RB1):c.862-8T>C rs745767704 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.905C>T (p.Ser302Phe) rs1208736713 0.00001
NM_000321.3(RB1):c.958C>G (p.Arg320Gly) rs121913300 0.00001
NM_000321.3(RB1):c.963C>T (p.Tyr321=) rs377235036 0.00001
NM_000321.3(RB1):c.965A>G (p.Glu322Gly) rs142620145 0.00001
NM_000321.3(RB1):c.999A>C (p.Ala333=) rs1254874409 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.1017T>C (p.His339=) rs1161993720
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.1049+4T>G
NM_000321.3(RB1):c.1050-15C>T rs776037881
NM_000321.3(RB1):c.1066A>C (p.Thr356Pro) rs2138123180
NM_000321.3(RB1):c.1066A>G (p.Thr356Ala)
NM_000321.3(RB1):c.1083C>T (p.Asn361=) rs976503237
NM_000321.3(RB1):c.1089T>A (p.Asp363Glu)
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln) rs1270702085
NM_000321.3(RB1):c.109A>C (p.Ser37Arg) rs896487590
NM_000321.3(RB1):c.111C>A (p.Ser37Arg)
NM_000321.3(RB1):c.112G>A (p.Gly38Ser)
NM_000321.3(RB1):c.114C>T (p.Gly38=) rs1369823342
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.117G>A (p.Pro39=)
NM_000321.3(RB1):c.1215+6C>A
NM_000321.3(RB1):c.1221C>T (p.Cys407=) rs756329704
NM_000321.3(RB1):c.1224A>C (p.Thr408=) rs371805499
NM_000321.3(RB1):c.1224A>G (p.Thr408=) rs371805499
NM_000321.3(RB1):c.1229A>C (p.Asn410Thr) rs1952831003
NM_000321.3(RB1):c.1291G>A (p.Ala431Thr) rs965729205
NM_000321.3(RB1):c.1294A>G (p.Lys432Glu)
NM_000321.3(RB1):c.129T>A (p.Pro43=) rs1304775415
NM_000321.3(RB1):c.1309G>T (p.Gly437Cys)
NM_000321.3(RB1):c.130C>G (p.Leu44Val) rs1345893304
NM_000321.3(RB1):c.1311T>C (p.Gly437=) rs759207520
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.1353C>T (p.Arg451=) rs912889209
NM_000321.3(RB1):c.1356G>A (p.Leu452=) rs201285819
NM_000321.3(RB1):c.135C>T (p.Val45=) rs1952055180
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.138-8T>C rs201562657
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>C (p.Ile470=) rs578226820
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.1422-13T>C
NM_000321.3(RB1):c.1422-6C>T
NM_000321.3(RB1):c.1422-8T>C
NM_000321.3(RB1):c.1422-9T>C
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>A (p.Ala490Thr) rs201458896
NM_000321.3(RB1):c.1468G>T (p.Ala490Ser) rs201458896
NM_000321.3(RB1):c.1470T>G (p.Ala490=) rs1213010309
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn) rs774706300
NM_000321.3(RB1):c.1499-13T>G
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr) rs1948533141
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro)
NM_000321.3(RB1):c.1519G>C (p.Asp507His) rs2138144909
NM_000321.3(RB1):c.1527A>G (p.Gly509=) rs1948533245
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.1581T>C (p.Asp527=)
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.1696-11G>A rs1949337308
NM_000321.3(RB1):c.1696-13A>T
NM_000321.3(RB1):c.1704T>G (p.Pro568=) rs1555293625
NM_000321.3(RB1):c.1713T>C (p.Asp571=) rs1286122592
NM_000321.3(RB1):c.1718T>C (p.Ile573Thr)
NM_000321.3(RB1):c.1719T>A (p.Ile573=) rs1593529908
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.1736G>T (p.Arg579Leu)
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.1785T>C (p.Pro595=) rs1194487890
NM_000321.3(RB1):c.1789C>A (p.Gln597Lys) rs1566233076
NM_000321.3(RB1):c.17C>A (p.Pro6His) rs755482658
NM_000321.3(RB1):c.1802C>T (p.Thr601Ile)
NM_000321.3(RB1):c.1805C>A (p.Ala602Glu)
NM_000321.3(RB1):c.1812T>C (p.Asp604=) rs2138327432
NM_000321.3(RB1):c.1814T>C (p.Met605Thr) rs1555293654
NM_000321.3(RB1):c.1815-4C>T rs1593531868
NM_000321.3(RB1):c.1815-8A>C
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.1844A>G (p.Lys615Arg) rs1334513810
NM_000321.3(RB1):c.1849G>C (p.Gly617Arg)
NM_000321.3(RB1):c.1873A>G (p.Thr625Ala)
NM_000321.3(RB1):c.1875T>C (p.Thr625=)
NM_000321.3(RB1):c.1882G>T (p.Ala628Ser)
NM_000321.3(RB1):c.1883C>T (p.Ala628Val) rs1329826610
NM_000321.3(RB1):c.1884A>G (p.Ala628=)
NM_000321.3(RB1):c.188A>T (p.Lys63Ile)
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu) rs1949359489
NM_000321.3(RB1):c.18C>T (p.Pro6=) rs1017683562
NM_000321.3(RB1):c.1918A>C (p.Lys640Gln)
NM_000321.3(RB1):c.1945C>G (p.Leu649Val)
NM_000321.3(RB1):c.1957A>G (p.Lys653Glu)
NM_000321.3(RB1):c.1960+6T>C
NM_000321.3(RB1):c.1961T>G (p.Val654Gly)
NM_000321.3(RB1):c.1963T>C (p.Tyr655His)
NM_000321.3(RB1):c.1963T>G (p.Tyr655Asp)
NM_000321.3(RB1):c.1980C>A (p.Leu660=)
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile) rs749739772
NM_000321.3(RB1):c.1992A>G (p.Thr664=) rs755417160
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg) rs1949383921
NM_000321.3(RB1):c.2010G>C (p.Leu670=)
NM_000321.3(RB1):c.2016G>C (p.Glu672Asp)
NM_000321.3(RB1):c.2018A>G (p.His673Arg)
NM_000321.3(RB1):c.201A>G (p.Pro67=)
NM_000321.3(RB1):c.2025A>T (p.Glu675Asp)
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser) rs1566235448
NM_000321.3(RB1):c.2035A>G (p.Ile679Val) rs897199998
NM_000321.3(RB1):c.2073G>A (p.Glu691=)
NM_000321.3(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.3(RB1):c.2091C>A (p.Asp697Glu)
NM_000321.3(RB1):c.2108T>C (p.Ile703Thr)
NM_000321.3(RB1):c.2130C>A (p.Gly710=)
NM_000321.3(RB1):c.2133A>T (p.Ile711=) rs2138342328
NM_000321.3(RB1):c.2177C>T (p.Thr726Ile)
NM_000321.3(RB1):c.2186A>G (p.Lys729Arg) rs150600740
NM_000321.3(RB1):c.218G>C (p.Arg73Thr)
NM_000321.3(RB1):c.2198A>G (p.His733Arg) rs778503152
NM_000321.3(RB1):c.2211+4G>C rs1060503076
NM_000321.3(RB1):c.2212-12G>T rs776987458
NM_000321.3(RB1):c.2212-13T>C
NM_000321.3(RB1):c.2212-14C>T rs80122842
NM_000321.3(RB1):c.2213C>A (p.Thr738Lys)
NM_000321.3(RB1):c.2229G>T (p.Leu743Phe)
NM_000321.3(RB1):c.2232C>G (p.Ile744Met)
NM_000321.3(RB1):c.2235AGA[1] (p.Glu748del)
NM_000321.3(RB1):c.2239G>A (p.Glu747Lys) rs1593539163
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.2357C>A (p.Pro786His)
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg) rs777670056
NM_000321.3(RB1):c.2382T>C (p.Ser794=) rs1470919585
NM_000321.3(RB1):c.2388C>G (p.Pro796=)
NM_000321.3(RB1):c.2388C>T (p.Pro796=)
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.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2424C>A (p.Pro808=)
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.2455C>T (p.Leu819=) rs375751988
NM_000321.3(RB1):c.2467A>G (p.Thr823Ala)
NM_000321.3(RB1):c.2485T>A (p.Ser829Thr) rs2138346264
NM_000321.3(RB1):c.2490-10A>C rs2138354548
NM_000321.3(RB1):c.2490-10_2490-6del rs1224162129
NM_000321.3(RB1):c.2490-1397_2490-1395del
NM_000321.3(RB1):c.2490-1399G>A
NM_000321.3(RB1):c.2490-14T>C
NM_000321.3(RB1):c.2490-5G>A rs1593544633
NM_000321.3(RB1):c.24A>C (p.Lys8Asn)
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)
NM_000321.3(RB1):c.2517C>A (p.Phe839Leu)
NM_000321.3(RB1):c.2518G>C (p.Gly840Arg) rs374157786
NM_000321.3(RB1):c.2520+3G>A rs868434367
NM_000321.3(RB1):c.2521-4G>T rs902298592
NM_000321.3(RB1):c.2521-5T>C
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu) rs754183765
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.2565C>T (p.Ser855=) rs2138359118
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr) rs149359120
NM_000321.3(RB1):c.2583A>G (p.Arg861=)
NM_000321.3(RB1):c.2586T>C (p.Ser862=) rs1593547157
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.2628C>T (p.Arg876=) rs1593547215
NM_000321.3(RB1):c.2641G>C (p.Gly881Arg)
NM_000321.3(RB1):c.265-9dup
NM_000321.3(RB1):c.2658T>C (p.Asp886=) rs1179137535
NM_000321.3(RB1):c.2664T>C (p.Ser888=)
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.2714-14C>T
NM_000321.3(RB1):c.2714C>T (p.Thr905Ile)
NM_000321.3(RB1):c.2726C>T (p.Thr909Ile) rs761999108
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.2755A>G (p.Ser919Gly) rs1555295597
NM_000321.3(RB1):c.2764A>G (p.Thr922Ala) rs1949528678
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.303C>A (p.Ile101=)
NM_000321.3(RB1):c.30C>T (p.Ala10=) rs530961288
NM_000321.3(RB1):c.317C>A (p.Ala106Glu)
NM_000321.3(RB1):c.318A>G (p.Ala106=)
NM_000321.3(RB1):c.31G>A (p.Ala11Thr)
NM_000321.3(RB1):c.321A>C (p.Ala107=) rs2138083810
NM_000321.3(RB1):c.32C>G (p.Ala11Gly) rs899323337
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
NM_000321.3(RB1):c.337A>G (p.Met113Val)
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.380+3A>G
NM_000321.3(RB1):c.381-13C>T
NM_000321.3(RB1):c.384C>G (p.Val128=)
NM_000321.3(RB1):c.393C>A (p.Phe131Leu) rs749495284
NM_000321.3(RB1):c.396T>C (p.Phe132=) rs768768956
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.468T>C (p.Asp156=)
NM_000321.3(RB1):c.474G>C (p.Leu158Phe) rs1319691084
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000321.3(RB1):c.487A>G (p.Ser163Gly)
NM_000321.3(RB1):c.48CGC[4] (p.Ala18_Glu19insAlaAla)
NM_000321.3(RB1):c.500+6_500+10del rs1328603105
NM_000321.3(RB1):c.500G>A (p.Arg167Lys)
NM_000321.3(RB1):c.501-15T>G
NM_000321.3(RB1):c.501-5T>C
NM_000321.3(RB1):c.501-8C>T
NM_000321.3(RB1):c.501-9T>C rs1593437266
NM_000321.3(RB1):c.504A>G (p.Thr168=)
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.52G>A (p.Ala18Thr) rs528218090
NM_000321.3(RB1):c.530C>T (p.Pro177Leu)
NM_000321.3(RB1):c.531CAG[1] (p.Ser180del)
NM_000321.3(RB1):c.534C>T (p.Ser178=)
NM_000321.3(RB1):c.539+1G>T
NM_000321.3(RB1):c.540-13A>T
NM_000321.3(RB1):c.540-9G>C rs1340503453
NM_000321.3(RB1):c.545C>T (p.Ser182Phe)
NM_000321.3(RB1):c.552A>C (p.Glu184Asp) rs1220347917
NM_000321.3(RB1):c.563C>A (p.Ala188Glu)
NM_000321.3(RB1):c.564A>G (p.Ala188=) rs1952522861
NM_000321.3(RB1):c.565T>C (p.Leu189=) rs2138093547
NM_000321.3(RB1):c.589A>G (p.Thr197Ala) rs1421476380
NM_000321.3(RB1):c.58C>A (p.Pro20Thr)
NM_000321.3(RB1):c.58C>T (p.Pro20Ser)
NM_000321.3(RB1):c.590C>T (p.Thr197Ile)
NM_000321.3(RB1):c.600A>C (p.Leu200Phe)
NM_000321.3(RB1):c.607+4A>G
NM_000321.3(RB1):c.607G>T (p.Gly203Trp) rs1012377281
NM_000321.3(RB1):c.608-13A>C rs751643356
NM_000321.3(RB1):c.608-15A>C
NM_000321.3(RB1):c.608-4del rs762805947
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.666C>T (p.Val222=)
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.69G>A (p.Pro23=) rs746662122
NM_000321.3(RB1):c.69G>C (p.Pro23=) rs746662122
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del) rs587778823
NM_000321.3(RB1):c.705C>T (p.Leu235=)
NM_000321.3(RB1):c.708A>T (p.Lys236Asn)
NM_000321.3(RB1):c.713C>G (p.Pro238Arg)
NM_000321.3(RB1):c.719A>G (p.Lys240Arg)
NM_000321.3(RB1):c.722C>T (p.Thr241Ile) rs1593445085
NM_000321.3(RB1):c.724G>A (p.Ala242Thr)
NM_000321.3(RB1):c.726T>G (p.Ala242=)
NM_000321.3(RB1):c.72G>A (p.Pro24=)
NM_000321.3(RB1):c.72G>C (p.Pro24=) rs1333596916
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.764G>A (p.Arg255Gln) rs746954896
NM_000321.3(RB1):c.766G>C (p.Gly256Arg)
NM_000321.3(RB1):c.76C>G (p.Pro26Ala)
NM_000321.3(RB1):c.770A>G (p.Gln257Arg) rs1232080974
NM_000321.3(RB1):c.776G>C (p.Arg259Thr)
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.812C>A (p.Thr271Lys)
NM_000321.3(RB1):c.814A>G (p.Arg272Gly) rs1555284945
NM_000321.3(RB1):c.819T>C (p.Ile273=)
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.892C>A (p.Pro298Thr) rs2138116427
NM_000321.3(RB1):c.895T>C (p.Phe299Leu)
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.97C>A (p.Pro33Thr)
NM_000321.3(RB1):c.980A>C (p.Lys327Thr)
NM_000321.3(RB1):c.991C>G (p.Leu331Val)
NM_000321.3(RB1):c.99A>G (p.Pro33=) rs1055176035

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.