ClinVar Miner

List of variants in gene RB1 reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 115
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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.1216-29A>G rs3092886 0.02593
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
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.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.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.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.109A>G (p.Ser37Gly) rs896487590 0.00003
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) rs554834063 0.00003
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.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.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.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.-48C>T
NM_000321.3(RB1):c.1127+20del rs1952727808
NM_000321.3(RB1):c.1333-9dup rs766968771
NM_000321.3(RB1):c.1389+25del
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.1422-8del rs747048469
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000321.3(RB1):c.1499-10dup rs148580581
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.2212-12G>T rs776987458
NM_000321.3(RB1):c.2212-14C>T rs80122842
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.2490-43A>G
NM_000321.3(RB1):c.2490-79A>G
NM_000321.3(RB1):c.264+18dup rs750176218
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.608-4del rs762805947
NM_000321.3(RB1):c.608-4dup rs762805947
NM_000321.3(RB1):c.940-21C>A rs559042622
NM_000321.3(RB1):c.940-9del

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