ClinVar Miner

List of variants in gene RB1 reported as likely benign for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 495
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HGVS dbSNP gnomAD frequency
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.380+10C>G rs187110786 0.00158
NM_000321.3(RB1):c.1421+9T>C rs183417081 0.00108
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser) rs146897002 0.00080
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
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.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000321.3(RB1):c.1140C>T (p.Asn380=) rs117865557 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.2212-12G>A rs776987458 0.00018
NM_000321.3(RB1):c.113G>A (p.Gly38Asp) rs766529534 0.00016
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.2570G>A (p.Arg857His) rs144668210 0.00013
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.367A>G (p.Asn123Asp) rs149800437 0.00010
NM_000321.3(RB1):c.36C>T (p.Thr12=) rs779180897 0.00010
NM_000321.3(RB1):c.1862G>A (p.Arg621His) rs373601944 0.00009
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000321.3(RB1):c.959G>A (p.Arg320Gln) rs760787104 0.00009
NM_000321.3(RB1):c.2464C>G (p.Pro822Ala) rs368413787 0.00008
NM_000321.3(RB1):c.1467C>T (p.Cys489=) rs141608408 0.00007
NM_000321.3(RB1):c.1967G>A (p.Arg656Gln) rs202031219 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.446C>T (p.Ser149Leu) rs587778870 0.00006
NM_000321.3(RB1):c.180A>G (p.Leu60=) rs878853948 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.1335A>T (p.Arg445=) rs757748029 0.00004
NM_000321.3(RB1):c.1619G>T (p.Gly540Val) rs769696726 0.00004
NM_000321.3(RB1):c.1814+11T>C rs771369373 0.00004
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp) rs367668687 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.1215C>T (p.Asn405=) rs758187955 0.00003
NM_000321.3(RB1):c.1216-4A>G rs763895695 0.00003
NM_000321.3(RB1):c.1814+3A>G rs376886420 0.00003
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) rs554834063 0.00003
NM_000321.3(RB1):c.2397T>G (p.Ile799Met) rs749392116 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.1083C>A (p.Asn361Lys) rs976503237 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.1989T>C (p.Asn663=) rs780654106 0.00002
NM_000321.3(RB1):c.2273C>T (p.Ser758Leu) rs754814477 0.00002
NM_000321.3(RB1):c.2370C>T (p.Tyr790=) rs794727372 0.00002
NM_000321.3(RB1):c.2461A>G (p.Thr821Ala) rs761015353 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.2670T>C (p.His890=) rs758547395 0.00002
NM_000321.3(RB1):c.354T>A (p.Thr118=) rs951251256 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.1073G>A (p.Arg358Gln) rs767011440 0.00001
NM_000321.3(RB1):c.1128-5del rs886038280 0.00001
NM_000321.3(RB1):c.1128G>C (p.Arg376Ser) rs908738769 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.1180G>A (p.Asp394Asn) rs753350745 0.00001
NM_000321.3(RB1):c.1198C>G (p.Leu400Val) rs535576919 0.00001
NM_000321.3(RB1):c.1215+3A>G rs1254191370 0.00001
NM_000321.3(RB1):c.1243A>C (p.Ile415Leu) rs1346693507 0.00001
NM_000321.3(RB1):c.124C>T (p.Leu42=) rs1312883856 0.00001
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu) rs748635133 0.00001
NM_000321.3(RB1):c.1317C>T (p.Val439=) rs1952832303 0.00001
NM_000321.3(RB1):c.1323T>C (p.Ile441=) rs1952832419 0.00001
NM_000321.3(RB1):c.138-4G>A rs1010049143 0.00001
NM_000321.3(RB1):c.1389A>G (p.Ser463=) rs1486168292 0.00001
NM_000321.3(RB1):c.1399C>A (p.Arg467=) rs398123331 0.00001
NM_000321.3(RB1):c.144G>A (p.Glu48=) rs1021965284 0.00001
NM_000321.3(RB1):c.1459T>C (p.Leu487=) rs1269949158 0.00001
NM_000321.3(RB1):c.1463C>T (p.Ala488Val) rs780248969 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.1542C>T (p.Phe514=) rs1436921535 0.00001
NM_000321.3(RB1):c.1545A>G (p.Pro515=) rs1486158291 0.00001
NM_000321.3(RB1):c.1596C>T (p.Ile532=) rs770728170 0.00001
NM_000321.3(RB1):c.1648T>C (p.Leu550=) rs1280754489 0.00001
NM_000321.3(RB1):c.165T>A (p.Pro55=) rs775560197 0.00001
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln) rs773116120 0.00001
NM_000321.3(RB1):c.1681C>T (p.Leu561Phe) rs761257231 0.00001
NM_000321.3(RB1):c.1696-4A>G rs143685082 0.00001
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln) rs751560923 0.00001
NM_000321.3(RB1):c.1755C>T (p.His585=) rs750305249 0.00001
NM_000321.3(RB1):c.177A>T (p.Ala59=) rs189574280 0.00001
NM_000321.3(RB1):c.1815G>A (p.Met605Ile) rs1472724809 0.00001
NM_000321.3(RB1):c.1860G>A (p.Thr620=) rs750356534 0.00001
NM_000321.3(RB1):c.1944A>G (p.Ser648=) rs762529301 0.00001
NM_000321.3(RB1):c.1976A>G (p.Tyr659Cys) rs751799266 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.2049T>C (p.Leu683=) rs1048847950 0.00001
NM_000321.3(RB1):c.2058C>T (p.His686=) rs748484148 0.00001
NM_000321.3(RB1):c.2076T>C (p.Tyr692=) rs1060504827 0.00001
NM_000321.3(RB1):c.2127T>C (p.Tyr709=) rs1484231598 0.00001
NM_000321.3(RB1):c.215A>G (p.Glu72Gly) rs753307498 0.00001
NM_000321.3(RB1):c.2175A>G (p.Val725=) rs1339244165 0.00001
NM_000321.3(RB1):c.2259A>C (p.Ile753=) rs1387030828 0.00001
NM_000321.3(RB1):c.2274G>A (p.Ser758=) rs558114005 0.00001
NM_000321.3(RB1):c.2277C>T (p.Val759=) rs1949430859 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.2436A>G (p.Pro812=) rs1276641790 0.00001
NM_000321.3(RB1):c.2517C>T (p.Phe839=) rs759188465 0.00001
NM_000321.3(RB1):c.2559T>C (p.Cys853=) rs148327780 0.00001
NM_000321.3(RB1):c.2569C>G (p.Arg857Gly) rs1032510984 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.2614C>T (p.Leu872=) rs763673051 0.00001
NM_000321.3(RB1):c.2620A>C (p.Lys874Gln) rs757818801 0.00001
NM_000321.3(RB1):c.2623C>T (p.Leu875=) rs1381671623 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.2705C>A (p.Ala902Glu) rs781740936 0.00001
NM_000321.3(RB1):c.2726C>A (p.Thr909Lys) rs761999108 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.2774A>G (p.Lys925Arg) rs750946437 0.00001
NM_000321.3(RB1):c.2775G>A (p.Lys925=) rs936709957 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.399C>T (p.Asn133=) rs765277265 0.00001
NM_000321.3(RB1):c.501-3C>T rs773662417 0.00001
NM_000321.3(RB1):c.539C>T (p.Ser180Leu) rs367654488 0.00001
NM_000321.3(RB1):c.540-3T>C rs149703672 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.60C>T (p.Pro20=) rs777340111 0.00001
NM_000321.3(RB1):c.613G>A (p.Val205Ile) rs770100636 0.00001
NM_000321.3(RB1):c.658C>T (p.Leu220=) rs367960214 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.782C>T (p.Ala261Val) rs776307088 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.852T>C (p.Asn284=) rs1952657073 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
NM_000321.3(RB1):c.1042A>G (p.Ile348Val)
NM_000321.3(RB1):c.1043T>C (p.Ile348Thr) rs1295421967
NM_000321.3(RB1):c.105G>A (p.Gln35=)
NM_000321.3(RB1):c.1074A>T (p.Arg358=)
NM_000321.3(RB1):c.1083C>T (p.Asn361=) rs976503237
NM_000321.3(RB1):c.1086T>G (p.Leu362=) rs1212481028
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser) rs1168863456
NM_000321.3(RB1):c.1110T>C (p.Pro370=)
NM_000321.3(RB1):c.1113A>G (p.Pro371=) rs2138123437
NM_000321.3(RB1):c.1116C>T (p.His372=)
NM_000321.3(RB1):c.111C>T (p.Ser37=) rs1411090163
NM_000321.3(RB1):c.1122A>G (p.Pro374=)
NM_000321.3(RB1):c.1131T>C (p.Thr377=) rs1414284893
NM_000321.3(RB1):c.114C>T (p.Gly38=) rs1369823342
NM_000321.3(RB1):c.1152A>G (p.Gln384=)
NM_000321.3(RB1):c.1191A>G (p.Ser397=)
NM_000321.3(RB1):c.1206C>A (p.Ser402=) rs752679968
NM_000321.3(RB1):c.1206C>G (p.Ser402=) rs752679968
NM_000321.3(RB1):c.1216-4A>T
NM_000321.3(RB1):c.1218C>T (p.Asn406=) rs1593453983
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.1233A>G (p.Pro411=) rs754078025
NM_000321.3(RB1):c.1248G>A (p.Leu416=) rs2138136330
NM_000321.3(RB1):c.1257G>T (p.Val419=)
NM_000321.3(RB1):c.1269A>G (p.Gly423=)
NM_000321.3(RB1):c.1275C>T (p.Ile425=)
NM_000321.3(RB1):c.1284G>A (p.Glu428=) rs2138136532
NM_000321.3(RB1):c.129T>A (p.Pro43=) rs1304775415
NM_000321.3(RB1):c.1311T>C (p.Gly437=) rs759207520
NM_000321.3(RB1):c.1317C>G (p.Val439=) rs1952832303
NM_000321.3(RB1):c.1326A>T (p.Gly442=)
NM_000321.3(RB1):c.1335A>G (p.Arg445=)
NM_000321.3(RB1):c.1350T>G (p.Val450=)
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.1365A>G (p.Arg455=) rs1316896547
NM_000321.3(RB1):c.1365A>T (p.Arg455=)
NM_000321.3(RB1):c.1390-4T>C
NM_000321.3(RB1):c.1398A>G (p.Glu466=)
NM_000321.3(RB1):c.1401A>T (p.Arg467=)
NM_000321.3(RB1):c.1404A>G (p.Leu468=)
NM_000321.3(RB1):c.1407C>T (p.Ser469=)
NM_000321.3(RB1):c.1408A>G (p.Ile470Val)
NM_000321.3(RB1):c.1410T>C (p.Ile470=) rs578226820
NM_000321.3(RB1):c.1428T>C (p.Leu476=)
NM_000321.3(RB1):c.1429C>T (p.Leu477=)
NM_000321.3(RB1):c.1455T>C (p.Ser485=)
NM_000321.3(RB1):c.1464G>T (p.Ala488=)
NM_000321.3(RB1):c.1470T>A (p.Ala490=)
NM_000321.3(RB1):c.1470T>C (p.Ala490=)
NM_000321.3(RB1):c.1470T>G (p.Ala490=) rs1213010309
NM_000321.3(RB1):c.1482A>G (p.Val494=)
NM_000321.3(RB1):c.1503T>C (p.Ser501=) rs2138144821
NM_000321.3(RB1):c.1506A>G (p.Thr502=) rs1060503081
NM_000321.3(RB1):c.1509T>C (p.Ser503=)
NM_000321.3(RB1):c.1527A>G (p.Gly509=) rs1948533245
NM_000321.3(RB1):c.1536G>A (p.Leu512=) rs879124999
NM_000321.3(RB1):c.1539T>A (p.Ser513=)
NM_000321.3(RB1):c.1557T>C (p.Asn519=)
NM_000321.3(RB1):c.1569A>G (p.Leu523=)
NM_000321.3(RB1):c.156A>G (p.Thr52=)
NM_000321.3(RB1):c.1581T>C (p.Asp527=)
NM_000321.3(RB1):c.1584T>C (p.Phe528=) rs2138145241
NM_000321.3(RB1):c.1593G>A (p.Val531=)
NM_000321.3(RB1):c.1596C>A (p.Ile532=) rs770728170
NM_000321.3(RB1):c.159A>G (p.Glu53=)
NM_000321.3(RB1):c.15C>A (p.Thr5=) rs1593411934
NM_000321.3(RB1):c.15C>T (p.Thr5=)
NM_000321.3(RB1):c.1608C>A (p.Ile536=)
NM_000321.3(RB1):c.1635A>G (p.Glu545=)
NM_000321.3(RB1):c.163C>A (p.Pro55Thr)
NM_000321.3(RB1):c.1686A>C (p.Ala562=)
NM_000321.3(RB1):c.1686A>G (p.Ala562=)
NM_000321.3(RB1):c.1692C>G (p.Leu564=)
NM_000321.3(RB1):c.1692C>T (p.Leu564=) rs1593457168
NM_000321.3(RB1):c.1701A>G (p.Ser567=)
NM_000321.3(RB1):c.1704T>C (p.Pro568=)
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.1731G>A (p.Lys577=) rs1949337837
NM_000321.3(RB1):c.1735C>A (p.Arg579=)
NM_000321.3(RB1):c.1749T>G (p.Thr583=) rs913654931
NM_000321.3(RB1):c.174T>A (p.Thr58=)
NM_000321.3(RB1):c.174T>C (p.Thr58=)
NM_000321.3(RB1):c.1766C>T (p.Ala589Val) rs779045727
NM_000321.3(RB1):c.177A>G (p.Ala59=)
NM_000321.3(RB1):c.1785T>C (p.Pro595=) rs1194487890
NM_000321.3(RB1):c.17C>T (p.Pro6Leu)
NM_000321.3(RB1):c.1800C>T (p.His600=) rs1555293650
NM_000321.3(RB1):c.1827T>C (p.Pro609=) rs1593531889
NM_000321.3(RB1):c.1836T>C (p.Ser612=)
NM_000321.3(RB1):c.1836T>G (p.Ser612=) rs1949358828
NM_000321.3(RB1):c.1839A>G (p.Pro613=)
NM_000321.3(RB1):c.1857T>G (p.Thr619=)
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.1875T>C (p.Thr625=)
NM_000321.3(RB1):c.1884A>G (p.Ala628=)
NM_000321.3(RB1):c.1890A>G (p.Thr630=) rs1593532014
NM_000321.3(RB1):c.1893A>G (p.Gln631=) rs746361171
NM_000321.3(RB1):c.1899C>A (p.Thr633=)
NM_000321.3(RB1):c.1899C>T (p.Thr633=)
NM_000321.3(RB1):c.18C>A (p.Pro6=)
NM_000321.3(RB1):c.18C>T (p.Pro6=) rs1017683562
NM_000321.3(RB1):c.1905C>G (p.Ala635=)
NM_000321.3(RB1):c.1908C>T (p.Phe636=) rs2138331404
NM_000321.3(RB1):c.190T>C (p.Leu64=)
NM_000321.3(RB1):c.1911G>A (p.Gln637=)
NM_000321.3(RB1):c.1914C>A (p.Thr638=) rs770072166
NM_000321.3(RB1):c.1923A>G (p.Pro641=)
NM_000321.3(RB1):c.1932T>C (p.Ser644=) rs2138331538
NM_000321.3(RB1):c.1945C>T (p.Leu649=)
NM_000321.3(RB1):c.1962G>A (p.Val654=)
NM_000321.3(RB1):c.1962G>T (p.Val654=) rs2138335792
NM_000321.3(RB1):c.1971A>G (p.Leu657=) rs2138335837
NM_000321.3(RB1):c.1974C>T (p.Ala658=)
NM_000321.3(RB1):c.1992A>G (p.Thr664=) rs755417160
NM_000321.3(RB1):c.19C>A (p.Arg7=) rs1952051704
NM_000321.3(RB1):c.2004C>T (p.Arg668=) rs566777900
NM_000321.3(RB1):c.2013T>C (p.Ser671=)
NM_000321.3(RB1):c.2016G>A (p.Glu672=) rs1555294098
NM_000321.3(RB1):c.2016G>C (p.Glu672Asp)
NM_000321.3(RB1):c.201A>G (p.Pro67=)
NM_000321.3(RB1):c.2022A>C (p.Pro674=)
NM_000321.3(RB1):c.2022A>G (p.Pro674=)
NM_000321.3(RB1):c.2025A>G (p.Glu675=)
NM_000321.3(RB1):c.2037C>T (p.Ile679=)
NM_000321.3(RB1):c.2040C>A (p.Ile680=) rs1593534695
NM_000321.3(RB1):c.2046C>G (p.Thr682=) rs994129583
NM_000321.3(RB1):c.2046C>T (p.Thr682=) rs994129583
NM_000321.3(RB1):c.2055G>A (p.Gln685=)
NM_000321.3(RB1):c.2061C>T (p.Thr687=) rs113432974
NM_000321.3(RB1):c.2079A>G (p.Glu693=)
NM_000321.3(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.3(RB1):c.2130C>A (p.Gly710=)
NM_000321.3(RB1):c.2133A>T (p.Ile711=) rs2138342328
NM_000321.3(RB1):c.2145G>A (p.Lys715=) rs1555294515
NM_000321.3(RB1):c.2157T>G (p.Leu719=)
NM_000321.3(RB1):c.2169C>A (p.Ile723=)
NM_000321.3(RB1):c.219A>G (p.Arg73=)
NM_000321.3(RB1):c.21A>G (p.Arg7=) rs2138027098
NM_000321.3(RB1):c.2202T>C (p.Ala734=)
NM_000321.3(RB1):c.222T>G (p.Ala74=)
NM_000321.3(RB1):c.2232C>A (p.Ile744=)
NM_000321.3(RB1):c.2234A>G (p.Lys745Arg)
NM_000321.3(RB1):c.2238A>G (p.Glu746=) rs991505835
NM_000321.3(RB1):c.2241G>A (p.Glu747=) rs750057315
NM_000321.3(RB1):c.2244G>A (p.Glu748=) rs1131690911
NM_000321.3(RB1):c.2253T>A (p.Ser751=)
NM_000321.3(RB1):c.2265C>T (p.Phe755=)
NM_000321.3(RB1):c.2268T>C (p.Tyr756=) rs2138344778
NM_000321.3(RB1):c.2271C>T (p.Asn757=)
NM_000321.3(RB1):c.2307G>A (p.Leu769=)
NM_000321.3(RB1):c.2310G>A (p.Gln770=) rs777040395
NM_000321.3(RB1):c.2319C>T (p.Ser773=) rs2138345040
NM_000321.3(RB1):c.231T>A (p.Thr77=)
NM_000321.3(RB1):c.231T>C (p.Thr77=) rs1277146164
NM_000321.3(RB1):c.2326-4C>G rs1356053052
NM_000321.3(RB1):c.2326-4C>T
NM_000321.3(RB1):c.2328C>T (p.Pro776=)
NM_000321.3(RB1):c.2334C>T (p.Thr778=) rs1593539365
NM_000321.3(RB1):c.2343A>G (p.Pro781=)
NM_000321.3(RB1):c.2352C>T (p.His784=)
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.2391A>G (p.Leu797=)
NM_000321.3(RB1):c.2392C>A (p.Arg798=)
NM_000321.3(RB1):c.2397T>C (p.Ile799=) rs749392116
NM_000321.3(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2406G>C (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2409C>T (p.Asn803=) rs1379479714
NM_000321.3(RB1):c.240A>G (p.Lys80=)
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
NM_000321.3(RB1):c.2412C>A (p.Ile804=)
NM_000321.3(RB1):c.2415T>C (p.Tyr805=)
NM_000321.3(RB1):c.2418T>C (p.Ile806=)
NM_000321.3(RB1):c.2424C>A (p.Pro808=)
NM_000321.3(RB1):c.2424C>G (p.Pro808=)
NM_000321.3(RB1):c.2425C>T (p.Leu809=)
NM_000321.3(RB1):c.2427G>A (p.Leu809=) rs1279093123
NM_000321.3(RB1):c.2432G>A (p.Ser811Asn) rs1220980701
NM_000321.3(RB1):c.2455C>G (p.Leu819Val) rs375751988
NM_000321.3(RB1):c.2455C>T (p.Leu819=) rs375751988
NM_000321.3(RB1):c.2466A>C (p.Pro822=)
NM_000321.3(RB1):c.2466A>G (p.Pro822=)
NM_000321.3(RB1):c.246A>T (p.Ser82=)
NM_000321.3(RB1):c.2481A>G (p.Pro827=) rs1949433968
NM_000321.3(RB1):c.2484A>G (p.Arg828=) rs1949433985
NM_000321.3(RB1):c.2499A>G (p.Val833=)
NM_000321.3(RB1):c.2502A>G (p.Ser834=)
NM_000321.3(RB1):c.2521-4G>C
NM_000321.3(RB1):c.2556A>G (p.Val852=)
NM_000321.3(RB1):c.2562C>T (p.Asn854=)
NM_000321.3(RB1):c.2565C>T (p.Ser855=) rs2138359118
NM_000321.3(RB1):c.2574G>A (p.Val858=)
NM_000321.3(RB1):c.2586T>C (p.Ser862=) rs1593547157
NM_000321.3(RB1):c.2598C>T (p.Ser866=)
NM_000321.3(RB1):c.2604T>A (p.Pro868=)
NM_000321.3(RB1):c.2604T>C (p.Pro868=)
NM_000321.3(RB1):c.2616G>A (p.Leu872=)
NM_000321.3(RB1):c.2628C>T (p.Arg876=) rs1593547215
NM_000321.3(RB1):c.2646A>C (p.Ser882=)
NM_000321.3(RB1):c.2646A>G (p.Ser882=)
NM_000321.3(RB1):c.2652A>G (p.Glu884=) rs765537411
NM_000321.3(RB1):c.2655A>C (p.Ala885=)
NM_000321.3(RB1):c.2658T>C (p.Asp886=) rs1179137535
NM_000321.3(RB1):c.2673C>T (p.Leu891=)
NM_000321.3(RB1):c.2685C>G (p.Ser895=) rs2138360868
NM_000321.3(RB1):c.2694G>A (p.Gln898=) rs757275103
NM_000321.3(RB1):c.270T>C (p.Gly90=) rs1593434172
NM_000321.3(RB1):c.2715T>G (p.Thr905=)
NM_000321.3(RB1):c.2722C>A (p.Arg908=)
NM_000321.3(RB1):c.2730A>G (p.Arg910=) rs1245341503
NM_000321.3(RB1):c.2763T>C (p.Asp921=)
NM_000321.3(RB1):c.2772C>T (p.Asn924=) rs1949528716
NM_000321.3(RB1):c.2784A>G (p.Lys928=)
NM_000321.3(RB1):c.291A>G (p.Glu97=) rs919345517
NM_000321.3(RB1):c.294G>A (p.Leu98=) rs2138083659
NM_000321.3(RB1):c.309C>A (p.Ile103=) rs1593434233
NM_000321.3(RB1):c.30C>T (p.Ala10=) rs530961288
NM_000321.3(RB1):c.315T>A (p.Ile105=)
NM_000321.3(RB1):c.315T>C (p.Ile105=)
NM_000321.3(RB1):c.318A>T (p.Ala106=)
NM_000321.3(RB1):c.321A>C (p.Ala107=) rs2138083810
NM_000321.3(RB1):c.333T>C (p.Asp111=)
NM_000321.3(RB1):c.33C>T (p.Ala11=) rs1593411999
NM_000321.3(RB1):c.345C>T (p.Phe115=)
NM_000321.3(RB1):c.34_42del (p.9TAA[1]) rs759465865
NM_000321.3(RB1):c.360A>G (p.Leu120=)
NM_000321.3(RB1):c.363G>A (p.Gln121=) rs777410222
NM_000321.3(RB1):c.36C>A (p.Thr12=)
NM_000321.3(RB1):c.375A>G (p.Glu125=)
NM_000321.3(RB1):c.378C>A (p.Ile126=)
NM_000321.3(RB1):c.384C>T (p.Val128=)
NM_000321.3(RB1):c.387T>C (p.His129=)
NM_000321.3(RB1):c.393C>T (p.Phe131=)
NM_000321.3(RB1):c.396T>C (p.Phe132=) rs768768956
NM_000321.3(RB1):c.397A>G (p.Asn133Asp)
NM_000321.3(RB1):c.39C>T (p.Ala13=)
NM_000321.3(RB1):c.402A>G (p.Leu134=) rs1566186851
NM_000321.3(RB1):c.420C>A (p.Thr140=)
NM_000321.3(RB1):c.426C>A (p.Thr142=)
NM_000321.3(RB1):c.426C>G (p.Thr142=)
NM_000321.3(RB1):c.435T>C (p.Asp145=)
NM_000321.3(RB1):c.442A>G (p.Met148Val)
NM_000321.3(RB1):c.453G>T (p.Leu151=)
NM_000321.3(RB1):c.459G>A (p.Lys153=)
NM_000321.3(RB1):c.45T>C (p.Ala15=)
NM_000321.3(RB1):c.45T>G (p.Ala15=)
NM_000321.3(RB1):c.45_50del (p.Ala17_Ala18del)
NM_000321.3(RB1):c.474G>A (p.Leu158=) rs1319691084
NM_000321.3(RB1):c.474G>C (p.Leu158Phe) rs1319691084
NM_000321.3(RB1):c.476T>G (p.Phe159Cys) rs2138087738
NM_000321.3(RB1):c.480A>G (p.Ala160=) rs776484051
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000321.3(RB1):c.48C>T (p.Ala16=)
NM_000321.3(RB1):c.504A>G (p.Thr168=)
NM_000321.3(RB1):c.519T>C (p.Tyr173=)
NM_000321.3(RB1):c.51C>G (p.Ala17=) rs1593412073
NM_000321.3(RB1):c.51C>T (p.Ala17=)
NM_000321.3(RB1):c.520T>C (p.Leu174=)
NM_000321.3(RB1):c.528A>G (p.Gln176=) rs1952511922
NM_000321.3(RB1):c.534C>T (p.Ser178=)
NM_000321.3(RB1):c.541A>T (p.Ile181Leu)
NM_000321.3(RB1):c.54G>A (p.Ala18=)
NM_000321.3(RB1):c.561T>C (p.Ser187=)
NM_000321.3(RB1):c.562G>A (p.Ala188Thr) rs1189153218
NM_000321.3(RB1):c.563C>T (p.Ala188Val) rs1593437973
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.567G>A (p.Leu189=)
NM_000321.3(RB1):c.570G>A (p.Val190=) rs775061547
NM_000321.3(RB1):c.588C>T (p.Ile196=)
NM_000321.3(RB1):c.597A>G (p.Leu199=)
NM_000321.3(RB1):c.608-4del rs762805947
NM_000321.3(RB1):c.608-4dup rs762805947
NM_000321.3(RB1):c.60C>A (p.Pro20=) rs777340111
NM_000321.3(RB1):c.60C>G (p.Pro20=) rs777340111
NM_000321.3(RB1):c.615A>G (p.Val205=)
NM_000321.3(RB1):c.616T>C (p.Leu206=) rs886050270
NM_000321.3(RB1):c.618A>G (p.Leu206=) rs1593443486
NM_000321.3(RB1):c.621A>G (p.Gln207=)
NM_000321.3(RB1):c.634C>T (p.Leu212=) rs147085238
NM_000321.3(RB1):c.63G>C (p.Pro21=)
NM_000321.3(RB1):c.660A>G (p.Leu220=) rs886449283
NM_000321.3(RB1):c.663T>C (p.Cys221=)
NM_000321.3(RB1):c.666C>A (p.Val222=)
NM_000321.3(RB1):c.666C>T (p.Val222=)
NM_000321.3(RB1):c.669T>C (p.Leu223=)
NM_000321.3(RB1):c.66A>C (p.Ala22=) rs1014225642
NM_000321.3(RB1):c.66A>G (p.Ala22=) rs1014225642
NM_000321.3(RB1):c.66A>T (p.Ala22=)
NM_000321.3(RB1):c.672C>T (p.Asp224=)
NM_000321.3(RB1):c.678T>C (p.Phe226=)
NM_000321.3(RB1):c.687C>G (p.Leu229=)
NM_000321.3(RB1):c.687C>T (p.Leu229=) rs2138107911
NM_000321.3(RB1):c.693T>C (p.Pro231=)
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.714A>G (p.Pro238=)
NM_000321.3(RB1):c.720A>G (p.Lys240=) rs1555284919
NM_000321.3(RB1):c.723A>G (p.Thr241=)
NM_000321.3(RB1):c.72G>A (p.Pro24=)
NM_000321.3(RB1):c.72G>C (p.Pro24=) rs1333596916
NM_000321.3(RB1):c.741T>C (p.Asn247=)
NM_000321.3(RB1):c.744T>C (p.Gly248=) rs1297277579
NM_000321.3(RB1):c.756A>G (p.Thr252=) rs1469535414
NM_000321.3(RB1):c.75G>A (p.Pro25=)
NM_000321.3(RB1):c.75G>T (p.Pro25=)
NM_000321.3(RB1):c.771G>A (p.Gln257=)
NM_000321.3(RB1):c.78G>T (p.Pro26=)
NM_000321.3(RB1):c.792A>C (p.Ala264=)
NM_000321.3(RB1):c.806A>G (p.Asn269Ser) rs1952656398
NM_000321.3(RB1):c.810T>C (p.Asp270=) rs1555284937
NM_000321.3(RB1):c.81C>T (p.Pro27=)
NM_000321.3(RB1):c.843T>C (p.His281=)
NM_000321.3(RB1):c.84T>A (p.Pro28=)
NM_000321.3(RB1):c.864G>A (p.Val288=)
NM_000321.3(RB1):c.873T>C (p.Val291=)
NM_000321.3(RB1):c.876T>C (p.Tyr292=) rs2138116341
NM_000321.3(RB1):c.891A>C (p.Ile297=)
NM_000321.3(RB1):c.909T>G (p.Leu303=)
NM_000321.3(RB1):c.912A>G (p.Gly304=) rs1593446655
NM_000321.3(RB1):c.921A>G (p.Thr307=) rs1268911747
NM_000321.3(RB1):c.93G>A (p.Glu31=)
NM_000321.3(RB1):c.945A>G (p.Glu315=)
NM_000321.3(RB1):c.947A>G (p.Asn316Ser) rs2138120959
NM_000321.3(RB1):c.948T>C (p.Asn316=) rs749023632
NM_000321.3(RB1):c.957A>G (p.Lys319=)
NM_000321.3(RB1):c.978T>C (p.Leu326=)
NM_000321.3(RB1):c.978T>G (p.Leu326=) rs2138121153
NM_000321.3(RB1):c.999A>G (p.Ala333=)
NM_000321.3(RB1):c.99A>G (p.Pro33=) rs1055176035
NM_000321.3(RB1):c.9C>A (p.Pro3=)
NM_000321.3(RB1):c.9C>T (p.Pro3=)

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.