ClinVar Miner

List of variants in gene RB1 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.500+23T>G rs198617 0.93273
NM_000321.3(RB1):c.501-77A>G rs198616 0.92110
NM_000321.3(RB1):c.1499-182T>A rs2804085 0.91988
NM_000321.3(RB1):c.1695+97T>A rs2804086 0.91986
NM_000321.3(RB1):c.2106+185A>G rs198581 0.91031
NM_000321.3(RB1):c.2663+33C>T rs3020646 0.90292
NM_000321.3(RB1):c.2713+308G>A rs2984828 0.90273
NM_000321.3(RB1):c.2106+136C>T rs9562824 0.89112
NM_000321.3(RB1):c.1961-77G>A rs198580 0.88350
NM_000321.3(RB1):c.1696-277C>T rs198574 0.77217
NM_000321.3(RB1):c.718+312A>T rs198619 0.55756
NM_000321.3(RB1):c.137+107G>A rs2252544 0.55039
NM_000321.3(RB1):c.2106+142del rs377255892 0.26073
NM_000321.3(RB1):c.380+45C>T rs520342 0.21231
NM_000321.3(RB1):c.2106+139T>C rs368843896 0.20964
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_000321.3(RB1):c.381-152A>G rs3092899 0.11650
NM_000321.3(RB1):c.608-3182C>T rs9535021 0.10366
NM_000321.3(RB1):c.1127+74C>T rs3092888 0.07482
NM_000321.3(RB1):c.264+75T>C rs3092865 0.05520
NM_000321.3(RB1):c.1216-230G>T rs4151532 0.05238
NM_000321.3(RB1):c.2106+146del rs370147449 0.05175
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_000321.3(RB1):c.1049+270G>A rs4151502 0.03590
NM_000321.3(RB1):c.540-162T>C rs74075978 0.03583
NM_000321.3(RB1):c.608-3377C>T rs113995265 0.03314
NM_000321.3(RB1):c.608-3569T>C rs77089731 0.03313
NM_000321.3(RB1):c.500+305G>T rs4151460 0.03256
NM_000321.3(RB1):c.264+283T>C rs4151429 0.03246
NM_000321.3(RB1):c.861+505C>G rs4151487 0.03244
NM_000321.3(RB1):c.1215+220G>A rs4151524 0.03175
NM_000321.3(RB1):c.1815-104A>G rs3092898 0.02847
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_000321.3(RB1):c.861+167A>G rs2097211 0.01797
NM_000321.3(RB1):c.*964C>G rs4151633 0.01550
NM_000321.3(RB1):c.*1687T>C rs4151635 0.01545
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_000321.3(RB1):c.2490-1323C>T rs55926808 0.01180
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000321.3(RB1):c.*463T>A rs4151631 0.01065
NM_000321.3(RB1):c.*703G>T rs139023385 0.00672
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.2490-45A>G rs4151610 0.00540
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.2212-6C>T rs776162179 0.00164
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.*172G>A rs143536240 0.00137
NM_000321.3(RB1):c.1421+9T>C rs183417081 0.00108
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
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.52G>T (p.Ala18Ser) rs528218090 0.00076
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.540-14T>C rs140706037 0.00022
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.-69G>C rs753117180 0.00014
NM_000321.3(RB1):c.1156A>G (p.Met386Val) rs564780653 0.00014
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.2714-11C>T rs764362157 0.00010
NM_000321.3(RB1):c.367A>G (p.Asn123Asp) rs149800437 0.00010
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000321.3(RB1):c.1960+19T>A rs774145452 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.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000321.3(RB1):c.*1748A>T rs556205552 0.00005
NM_000321.3(RB1):c.2003G>A (p.Arg668His) rs551747882 0.00005
NM_000321.3(RB1):c.2652A>C (p.Glu884Asp) rs765537411 0.00005
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.16C>T (p.Pro6Ser) rs886043138 0.00004
NM_000321.3(RB1):c.173C>T (p.Thr58Ile) rs138574644 0.00004
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp) rs367668687 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.*1771A>G rs577749913 0.00003
NM_000321.3(RB1):c.109A>G (p.Ser37Gly) rs896487590 0.00003
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) rs554834063 0.00003
NM_000321.3(RB1):c.1128-43C>T rs955333850 0.00002
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg) rs974956317 0.00002
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys) rs1060503078 0.00002
NM_000321.3(RB1):c.1696-14C>T rs776912915 0.00002
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile) rs587778641 0.00002
NM_000321.3(RB1):c.1961-6C>T rs200501806 0.00002
NM_000321.3(RB1):c.2212-15dup rs1555294580 0.00002
NM_000321.3(RB1):c.2273C>T (p.Ser758Leu) rs754814477 0.00002
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.116C>T (p.Pro39Leu) rs1180053508 0.00001
NM_000321.3(RB1):c.1421+6T>C rs768192190 0.00001
NM_000321.3(RB1):c.1494T>C (p.Tyr498=) rs768929728 0.00001
NM_000321.3(RB1):c.155C>T (p.Thr52Ile) rs780588550 0.00001
NM_000321.3(RB1):c.1596C>T (p.Ile532=) rs770728170 0.00001
NM_000321.3(RB1):c.1815-5T>C rs770160524 0.00001
NM_000321.3(RB1):c.1876G>A (p.Ala626Thr) rs747147942 0.00001
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser) rs1007286459 0.00001
NM_000321.3(RB1):c.2002C>T (p.Arg668Cys) rs369755801 0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) rs3092903 0.00001
NM_000321.3(RB1):c.2274G>A (p.Ser758=) rs558114005 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.265-6_265-4del rs780733860 0.00001
NM_000321.3(RB1):c.269G>T (p.Gly90Val) rs554727080 0.00001
NM_000321.3(RB1):c.272A>G (p.Tyr91Cys) rs750850735 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.539C>T (p.Ser180Leu) rs367654488 0.00001
NM_000321.3(RB1):c.540-3T>C rs149703672 0.00001
NM_000321.3(RB1):c.571C>T (p.Leu191=) rs538578527 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.718+12A>G rs535040007 0.00001
NM_000321.3(RB1):c.83C>G (p.Pro28Arg) rs776175164 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.*1268G>A rs571383547
NM_000321.3(RB1):c.-48C>T
NM_000321.3(RB1):c.1049+58G>A rs3092883
NM_000321.3(RB1):c.1127+20del rs1952727808
NM_000321.3(RB1):c.1128-45C>T rs1285629437
NM_000321.3(RB1):c.1128-72G>T rs185587
NM_000321.3(RB1):c.1274T>C (p.Ile425Thr)
NM_000321.3(RB1):c.1333-61dup rs11449461
NM_000321.3(RB1):c.1333-9dup rs766968771
NM_000321.3(RB1):c.137+13A>T rs762766187
NM_000321.3(RB1):c.137+86T>C rs2854351
NM_000321.3(RB1):c.138-262G>C rs1981434
NM_000321.3(RB1):c.1389+194del rs3092892
NM_000321.3(RB1):c.1389+25del
NM_000321.3(RB1):c.1389+34G>A
NM_000321.3(RB1):c.1390-168G>C rs2070752
NM_000321.3(RB1):c.1390-17del rs753535084
NM_000321.3(RB1):c.1390-17dup rs753535084
NM_000321.3(RB1):c.1390-70del rs35427721
NM_000321.3(RB1):c.1390-70dup rs35427721
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.1422-16T>C
NM_000321.3(RB1):c.1422-8del rs747048469
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000321.3(RB1):c.1499-10dup rs148580581
NM_000321.3(RB1):c.1499-57del rs11351399
NM_000321.3(RB1):c.1695+81_1695+82insAA rs4151540
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly) rs779045727
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.1861C>G (p.Arg621Gly) rs367578442
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.3(RB1):c.1863T>A (p.Arg621=)
NM_000321.3(RB1):c.2106+111dup rs66565903
NM_000321.3(RB1):c.2106+119_2106+120insCT rs747042227
NM_000321.3(RB1):c.2106+119_2106+120insCTT rs765008765
NM_000321.3(RB1):c.2106+119_2106+120insCTTTCTT rs765008765
NM_000321.3(RB1):c.2106+120_2106+121del rs66738983
NM_000321.3(RB1):c.2106+121del rs66738983
NM_000321.3(RB1):c.2106+122_2106+149del rs1566235830
NM_000321.3(RB1):c.2106+129dup rs374033062
NM_000321.3(RB1):c.2106+146_2106+147insCTTTTT rs10627069
NM_000321.3(RB1):c.2106+68_2106+70del rs1379075407
NM_000321.3(RB1):c.2106+96_2106+147del rs1566235744
NM_000321.3(RB1):c.2212-12G>T rs776987458
NM_000321.3(RB1):c.2212-13_2212-12insTTTTTTTT rs1593539077
NM_000321.3(RB1):c.2212-14C>T rs80122842
NM_000321.3(RB1):c.2212-15A>T rs372815788
NM_000321.3(RB1):c.2212-15_2212-14del rs756296581
NM_000321.3(RB1):c.2212-16del
NM_000321.3(RB1):c.2212-16dup rs553094345
NM_000321.3(RB1):c.2212-17_2212-16del rs553094345
NM_000321.3(RB1):c.2212-17_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-18_2212-16del rs553094345
NM_000321.3(RB1):c.2212-18_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-29_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-37_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000321.3(RB1):c.2325+11del rs2138345110
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.2489+19G>T
NM_000321.3(RB1):c.2489+214G>T rs4151602
NM_000321.3(RB1):c.2490-43A>G
NM_000321.3(RB1):c.2490-79A>G
NM_000321.3(RB1):c.264+182_264+980del
NM_000321.3(RB1):c.264+18dup rs750176218
NM_000321.3(RB1):c.264+310dup rs11452683
NM_000321.3(RB1):c.265-244_265-237del rs146556286
NM_000321.3(RB1):c.265-9551T>A
NM_000321.3(RB1):c.2664-10dup
NM_000321.3(RB1):c.2713+14del rs2138361049
NM_000321.3(RB1):c.397A>C (p.Asn133His) rs3092900
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000321.3(RB1):c.608-144dup rs547128110
NM_000321.3(RB1):c.608-4del rs762805947
NM_000321.3(RB1):c.608-4dup rs762805947
NM_000321.3(RB1):c.719-315del rs148037416
NM_000321.3(RB1):c.861+262del rs11332935
NM_000321.3(RB1):c.861+262dup rs11332935
NM_000321.3(RB1):c.862-127del rs144536235
NM_000321.3(RB1):c.940-21C>A rs559042622
NM_000321.3(RB1):c.940-9del

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.