ClinVar Miner

List of variants reported as likely benign for retinal cell cancer by All of Us Research Program, National Institutes of Health

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
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.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.731T>C (p.Ile244Thr) rs147754935 0.00004
NM_000321.3(RB1):c.2521-9A>C rs949077145 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.1898C>T (p.Thr633Ile) rs587778641 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.354T>A (p.Thr118=) rs951251256 0.00002
NM_000321.3(RB1):c.850A>G (p.Asn284Asp) rs761609284 0.00002
NM_000321.3(RB1):c.1050-11T>C rs201410490 0.00001
NM_000321.3(RB1):c.1128-6C>T rs1566196389 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.1323T>C (p.Ile441=) rs1952832419 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.1494T>C (p.Tyr498=) rs768929728 0.00001
NM_000321.3(RB1):c.1542C>T (p.Phe514=) rs1436921535 0.00001
NM_000321.3(RB1):c.1648T>C (p.Leu550=) rs1280754489 0.00001
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln) rs751560923 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.1860G>A (p.Thr620=) rs750356534 0.00001
NM_000321.3(RB1):c.201A>C (p.Pro67=) rs1268550381 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.2277C>T (p.Val759=) rs1949430859 0.00001
NM_000321.3(RB1):c.2349T>A (p.Pro783=) rs753349760 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.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.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.399C>T (p.Asn133=) rs765277265 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.608-11T>C rs1158572664 0.00001
NM_000321.3(RB1):c.608-13A>T rs751643356 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.6G>T (p.Pro2=) rs1593411898 0.00001
NM_000321.3(RB1):c.783A>G (p.Ala261=) rs759311626 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.862-8T>C rs745767704 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.999A>C (p.Ala333=) rs1254874409 0.00001
NM_000321.3(RB1):c.1017T>C (p.His339=) rs1161993720
NM_000321.3(RB1):c.1050-15C>T rs776037881
NM_000321.3(RB1):c.1083C>T (p.Asn361=) rs976503237
NM_000321.3(RB1):c.114C>T (p.Gly38=) rs1369823342
NM_000321.3(RB1):c.117G>A (p.Pro39=)
NM_000321.3(RB1):c.1221C>T (p.Cys407=) rs756329704
NM_000321.3(RB1):c.1224A>G (p.Thr408=) rs371805499
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.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.138-8T>C rs201562657
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.1470T>G (p.Ala490=) rs1213010309
NM_000321.3(RB1):c.1499-13T>G
NM_000321.3(RB1):c.1527A>G (p.Gly509=) rs1948533245
NM_000321.3(RB1):c.1581T>C (p.Asp527=)
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.1719T>A (p.Ile573=) rs1593529908
NM_000321.3(RB1):c.1785T>C (p.Pro595=) rs1194487890
NM_000321.3(RB1):c.1812T>C (p.Asp604=) rs2138327432
NM_000321.3(RB1):c.1815-4C>T rs1593531868
NM_000321.3(RB1):c.1815-8A>C
NM_000321.3(RB1):c.1875T>C (p.Thr625=)
NM_000321.3(RB1):c.1884A>G (p.Ala628=)
NM_000321.3(RB1):c.18C>T (p.Pro6=) rs1017683562
NM_000321.3(RB1):c.1980C>A (p.Leu660=)
NM_000321.3(RB1):c.1992A>G (p.Thr664=) rs755417160
NM_000321.3(RB1):c.2010G>C (p.Leu670=)
NM_000321.3(RB1):c.201A>G (p.Pro67=)
NM_000321.3(RB1):c.2073G>A (p.Glu691=)
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.218G>C (p.Arg73Thr)
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.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.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2424C>A (p.Pro808=)
NM_000321.3(RB1):c.2490-10A>C rs2138354548
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.2521-4G>T rs902298592
NM_000321.3(RB1):c.2521-5T>C
NM_000321.3(RB1):c.2565C>T (p.Ser855=) rs2138359118
NM_000321.3(RB1):c.2583A>G (p.Arg861=)
NM_000321.3(RB1):c.2586T>C (p.Ser862=) rs1593547157
NM_000321.3(RB1):c.2628C>T (p.Arg876=) rs1593547215
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.2714-14C>T
NM_000321.3(RB1):c.303C>A (p.Ile101=)
NM_000321.3(RB1):c.30C>T (p.Ala10=) rs530961288
NM_000321.3(RB1):c.318A>G (p.Ala106=)
NM_000321.3(RB1):c.321A>C (p.Ala107=) rs2138083810
NM_000321.3(RB1):c.381-13C>T
NM_000321.3(RB1):c.384C>G (p.Val128=)
NM_000321.3(RB1):c.396T>C (p.Phe132=) rs768768956
NM_000321.3(RB1):c.468T>C (p.Asp156=)
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
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.534C>T (p.Ser178=)
NM_000321.3(RB1):c.540-13A>T
NM_000321.3(RB1):c.540-9G>C rs1340503453
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.608-13A>C rs751643356
NM_000321.3(RB1):c.608-15A>C
NM_000321.3(RB1):c.666C>T (p.Val222=)
NM_000321.3(RB1):c.69G>A (p.Pro23=) rs746662122
NM_000321.3(RB1):c.705C>T (p.Leu235=)
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.819T>C (p.Ile273=)
NM_000321.3(RB1):c.99A>G (p.Pro33=) rs1055176035

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