ClinVar Miner

List of variants in gene RB1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 301
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HGVS dbSNP
NM_000321.2(RB1):c.*1022C>T rs886050283
NM_000321.2(RB1):c.*1459T>C rs886050284
NM_000321.2(RB1):c.*1540A>G rs768155412
NM_000321.2(RB1):c.*1544T>C rs886050285
NM_000321.2(RB1):c.*162T>G rs886050273
NM_000321.2(RB1):c.*1635T>A rs886050286
NM_000321.2(RB1):c.*398G>T rs886050274
NM_000321.2(RB1):c.*413T>G rs886050275
NM_000321.2(RB1):c.*435A>G rs886050276
NM_000321.2(RB1):c.*448_*451delATCT rs746086958
NM_000321.2(RB1):c.*512A>C rs886050278
NM_000321.2(RB1):c.*604A>T rs886050279
NM_000321.2(RB1):c.*673G>T rs886050280
NM_000321.2(RB1):c.*788C>A rs886050281
NM_000321.2(RB1):c.*998G>A rs886050282
NM_000321.2(RB1):c.-153G>T rs886050266
NM_000321.2(RB1):c.-156C>A rs886050265
NM_000321.2(RB1):c.-69G>C rs753117180
NM_000321.2(RB1):c.-81G>A rs886050267
NM_000321.2(RB1):c.1016A>G (p.His339Arg) rs1566194383
NM_000321.2(RB1):c.1024A>T (p.Thr342Ser)
NM_000321.2(RB1):c.1031A>G (p.Gln344Arg) rs1566194400
NM_000321.2(RB1):c.1037A>C (p.Asp346Ala)
NM_000321.2(RB1):c.1043T>C (p.Ile348Thr) rs1295421967
NM_000321.2(RB1):c.1049+5T>G
NM_000321.2(RB1):c.104A>T (p.Gln35Leu) rs1480581747
NM_000321.2(RB1):c.1067C>T (p.Thr356Ile)
NM_000321.2(RB1):c.106G>A (p.Asp36Asn) rs745822791
NM_000321.2(RB1):c.1073G>A (p.Arg358Gln) rs767011440
NM_000321.2(RB1):c.1083C>A (p.Asn361Lys)
NM_000321.2(RB1):c.1093G>A (p.Glu365Lys)
NM_000321.2(RB1):c.1093G>C (p.Glu365Gln) rs1270702085
NM_000321.2(RB1):c.1095G>C (p.Glu365Asp)
NM_000321.2(RB1):c.109A>C (p.Ser37Arg) rs896487590
NM_000321.2(RB1):c.109A>G (p.Ser37Gly) rs896487590
NM_000321.2(RB1):c.1107T>C (p.Ile369=) rs587778856
NM_000321.2(RB1):c.1108C>T (p.Pro370Ser) rs1168863456
NM_000321.2(RB1):c.1139A>G (p.Asn380Ser) rs1470523018
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.1159A>G (p.Met387Val) rs190689977
NM_000321.2(RB1):c.1159A>T (p.Met387Leu) rs190689977
NM_000321.2(RB1):c.1163T>C (p.Ile388Thr)
NM_000321.2(RB1):c.1163T>G (p.Ile388Ser)
NM_000321.2(RB1):c.116C>T (p.Pro39Leu) rs1180053508
NM_000321.2(RB1):c.1174G>A (p.Ala392Thr) rs181988132
NM_000321.2(RB1):c.1180G>A (p.Asp394Asn) rs753350745
NM_000321.2(RB1):c.118G>A (p.Glu40Lys)
NM_000321.2(RB1):c.1198C>G (p.Leu400Val) rs535576919
NM_000321.2(RB1):c.1215+10A>G
NM_000321.2(RB1):c.1215+3A>G rs1254191370
NM_000321.2(RB1):c.1215C>T (p.Asn405=) rs758187955
NM_000321.2(RB1):c.1223C>T (p.Thr408Ile)
NM_000321.2(RB1):c.1243A>G (p.Ile415Val) rs1346693507
NM_000321.2(RB1):c.125T>A (p.Leu42Gln)
NM_000321.2(RB1):c.1268G>A (p.Gly423Glu) rs748635133
NM_000321.2(RB1):c.128C>G (p.Pro43Arg) rs1555279239
NM_000321.2(RB1):c.1291G>A (p.Ala431Thr)
NM_000321.2(RB1):c.1297G>A (p.Ala433Thr) rs1166566395
NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) rs4151534
NM_000321.2(RB1):c.130C>A (p.Leu44Ile)
NM_000321.2(RB1):c.1318G>A (p.Glu440Lys) rs1060503078
NM_000321.2(RB1):c.1325G>C (p.Gly442Ala) rs1370947947
NM_000321.2(RB1):c.1351C>T (p.Arg451Cys)
NM_000321.2(RB1):c.1352G>A (p.Arg451His) rs1312442837
NM_000321.2(RB1):c.1356G>T (p.Leu452Phe)
NM_000321.2(RB1):c.1364G>A (p.Arg455Gln)
NM_000321.2(RB1):c.1364G>C (p.Arg455Pro) rs769425649
NM_000321.2(RB1):c.137+6C>A rs1273298763
NM_000321.2(RB1):c.137+6C>T rs1273298763
NM_000321.2(RB1):c.1376C>T (p.Ser459Phe)
NM_000321.2(RB1):c.1378A>G (p.Met460Val)
NM_000321.2(RB1):c.1390-17T>A rs794727138
NM_000321.2(RB1):c.1399C>G (p.Arg467Gly)
NM_000321.2(RB1):c.13A>C (p.Thr5Pro) rs898303682
NM_000321.2(RB1):c.1406C>T (p.Ser469Phe) rs1243796201
NM_000321.2(RB1):c.1408A>C (p.Ile470Leu)
NM_000321.2(RB1):c.1410T>G (p.Ile470Met)
NM_000321.2(RB1):c.1439A>G (p.Asn480Ser) rs1555286598
NM_000321.2(RB1):c.1454C>G (p.Ser485Cys)
NM_000321.2(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.2(RB1):c.1472T>A (p.Leu491His)
NM_000321.2(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.2(RB1):c.1474G>A (p.Glu492Lys) rs1060503084
NM_000321.2(RB1):c.1486G>T (p.Ala496Ser) rs1366675428
NM_000321.2(RB1):c.1489A>G (p.Thr497Ala) rs776531398
NM_000321.2(RB1):c.148G>C (p.Glu50Gln) rs1060503085
NM_000321.2(RB1):c.1497C>T (p.Ser499=)
NM_000321.2(RB1):c.1499G>T (p.Arg500Ile)
NM_000321.2(RB1):c.14C>T (p.Thr5Ile)
NM_000321.2(RB1):c.1505C>T (p.Thr502Ile) rs752334972
NM_000321.2(RB1):c.1506A>G (p.Thr502=) rs1060503081
NM_000321.2(RB1):c.1526G>C (p.Gly509Ala) rs1555286684
NM_000321.2(RB1):c.1547G>C (p.Trp516Ser) rs1555286687
NM_000321.2(RB1):c.155C>T (p.Thr52Ile)
NM_000321.2(RB1):c.1573G>A (p.Ala525Thr) rs587778640
NM_000321.2(RB1):c.1574C>A (p.Ala525Asp) rs4151539
NM_000321.2(RB1):c.1595T>A (p.Ile532Asn) rs1566199571
NM_000321.2(RB1):c.1617A>C (p.Glu539Asp) rs371031574
NM_000321.2(RB1):c.1619G>T (p.Gly540Val) rs769696726
NM_000321.2(RB1):c.1645C>A (p.His549Asn)
NM_000321.2(RB1):c.1664A>G (p.His555Arg) rs1555286700
NM_000321.2(RB1):c.1667G>A (p.Arg556Gln)
NM_000321.2(RB1):c.1672A>C (p.Met558Leu) rs1419550675
NM_000321.2(RB1):c.1675G>C (p.Glu559Gln) rs1131690869
NM_000321.2(RB1):c.1678T>C (p.Ser560Pro)
NM_000321.2(RB1):c.1695+2dup rs1566199647
NM_000321.2(RB1):c.1696-4A>G rs143685082
NM_000321.2(RB1):c.1696-5T>G
NM_000321.2(RB1):c.16C>T (p.Pro6Ser) rs886043138
NM_000321.2(RB1):c.1707A>G (p.Leu569=) rs3092895
NM_000321.2(RB1):c.1736G>A (p.Arg579Gln) rs751560923
NM_000321.2(RB1):c.173C>T (p.Thr58Ile) rs138574644
NM_000321.2(RB1):c.1753C>G (p.His585Asp) rs1401332173
NM_000321.2(RB1):c.1763C>T (p.Ser588Phe) rs1555293637
NM_000321.2(RB1):c.1766C>G (p.Ala589Gly) rs779045727
NM_000321.2(RB1):c.1768T>G (p.Cys590Gly) rs1060503089
NM_000321.2(RB1):c.1772C>T (p.Pro591Leu) rs1221157259
NM_000321.2(RB1):c.1778A>G (p.Asn593Ser)
NM_000321.2(RB1):c.1814+3A>G rs376886420
NM_000321.2(RB1):c.1814+4A>G rs1131690898
NM_000321.2(RB1):c.1814T>C (p.Met605Thr) rs1555293654
NM_000321.2(RB1):c.1815-1G>C
NM_000321.2(RB1):c.1815G>A (p.Met605Ile)
NM_000321.2(RB1):c.182G>A (p.Cys61Tyr)
NM_000321.2(RB1):c.1837C>T (p.Pro613Ser) rs1555293835
NM_000321.2(RB1):c.1844A>G (p.Lys615Arg)
NM_000321.2(RB1):c.1859C>T (p.Thr620Met) rs554834063
NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.2(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.2(RB1):c.1883C>T (p.Ala628Val)
NM_000321.2(RB1):c.1887G>C (p.Glu629Asp) rs367668687
NM_000321.2(RB1):c.1889C>T (p.Thr630Ile)
NM_000321.2(RB1):c.1898C>T (p.Thr633Ile) rs587778641
NM_000321.2(RB1):c.1904C>G (p.Ala635Gly)
NM_000321.2(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.2(RB1):c.1961T>C (p.Val654Ala)
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000321.2(RB1):c.1988A>G (p.Asn663Ser)
NM_000321.2(RB1):c.2002C>T (p.Arg668Cys)
NM_000321.2(RB1):c.2027T>C (p.Leu676Ser) rs1566235448
NM_000321.2(RB1):c.2033A>G (p.His678Arg)
NM_000321.2(RB1):c.2035A>G (p.Ile679Val) rs897199998
NM_000321.2(RB1):c.2066A>G (p.Gln689Arg) rs1447082021
NM_000321.2(RB1):c.2071G>A (p.Glu691Lys)
NM_000321.2(RB1):c.2078A>G (p.Glu693Gly)
NM_000321.2(RB1):c.2084T>G (p.Met695Arg) rs727504122
NM_000321.2(RB1):c.2091C>G (p.Asp697Glu) rs3092903
NM_000321.2(RB1):c.2106+8A>G rs750581965
NM_000321.2(RB1):c.2151A>G (p.Ile717Met) rs1555294518
NM_000321.2(RB1):c.2198A>G (p.His733Arg) rs778503152
NM_000321.2(RB1):c.219A>C (p.Arg73Ser) rs1131690854
NM_000321.2(RB1):c.2211+4G>C rs1060503076
NM_000321.2(RB1):c.2212-15A>G rs372815788
NM_000321.2(RB1):c.2212-16T>A rs201258424
NM_000321.2(RB1):c.221C>G (p.Ala74Gly) rs764472420
NM_000321.2(RB1):c.2221C>T (p.Arg741Cys) rs529366765
NM_000321.2(RB1):c.2222G>A (p.Arg741His)
NM_000321.2(RB1):c.2224G>C (p.Val742Leu) rs1060503083
NM_000321.2(RB1):c.2236G>C (p.Glu746Gln)
NM_000321.2(RB1):c.2239G>A (p.Glu747Lys)
NM_000321.2(RB1):c.2242G>A (p.Glu748Lys) rs121913297
NM_000321.2(RB1):c.2254A>C (p.Ile752Leu) rs1555294601
NM_000321.2(RB1):c.2254A>G (p.Ile752Val) rs1555294601
NM_000321.2(RB1):c.2274G>A (p.Ser758=)
NM_000321.2(RB1):c.2284C>A (p.Gln762Lys)
NM_000321.2(RB1):c.2285A>T (p.Gln762Leu)
NM_000321.2(RB1):c.2289A>T (p.Arg763Ser) rs1167280920
NM_000321.2(RB1):c.2290C>G (p.Leu764Val) rs138637932
NM_000321.2(RB1):c.2325+4G>A
NM_000321.2(RB1):c.2325+5G>A rs886042249
NM_000321.2(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.2(RB1):c.2332A>G (p.Thr778Ala) rs878853950
NM_000321.2(RB1):c.2356C>T (p.Pro786Ser) rs754507551
NM_000321.2(RB1):c.235G>C (p.Glu79Gln) rs1060503090
NM_000321.2(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.2(RB1):c.2381G>C (p.Ser794Thr)
NM_000321.2(RB1):c.238A>G (p.Lys80Glu) rs751870680
NM_000321.2(RB1):c.2392C>T (p.Arg798Trp) rs187912365
NM_000321.2(RB1):c.2397T>G (p.Ile799Met) rs749392116
NM_000321.2(RB1):c.2441A>G (p.Lys814Arg) rs1566237785
NM_000321.2(RB1):c.2442A>C (p.Lys814Asn) rs1566237790
NM_000321.2(RB1):c.248C>T (p.Ser83Phe)
NM_000321.2(RB1):c.2491A>G (p.Ile831Val) rs761068783
NM_000321.2(RB1):c.2501C>T (p.Ser834Leu)
NM_000321.2(RB1):c.2518G>A (p.Gly840Arg) rs374157786
NM_000321.2(RB1):c.2519G>A (p.Gly840Glu) rs1131690900
NM_000321.2(RB1):c.2520+3G>A
NM_000321.2(RB1):c.2527G>C (p.Glu843Gln) rs1566240914
NM_000321.2(RB1):c.2533T>C (p.Phe845Leu) rs754183765
NM_000321.2(RB1):c.2552T>C (p.Met851Thr) rs1566240932
NM_000321.2(RB1):c.2557T>C (p.Cys853Arg) rs1295589257
NM_000321.2(RB1):c.2558G>A (p.Cys853Tyr) rs1566240940
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.2567A>G (p.Asp856Gly) rs1555295331
NM_000321.2(RB1):c.2570G>A (p.Arg857His) rs144668210
NM_000321.2(RB1):c.2601C>G (p.Asn867Lys) rs1566240970
NM_000321.2(RB1):c.2620A>C (p.Lys874Gln)
NM_000321.2(RB1):c.2626C>T (p.Arg876Cys) rs143105337
NM_000321.2(RB1):c.2627G>A (p.Arg876His) rs767232453
NM_000321.2(RB1):c.2636T>C (p.Ile879Thr)
NM_000321.2(RB1):c.263T>G (p.Leu88Trp) rs1555279518
NM_000321.2(RB1):c.264+5G>C rs1131690853
NM_000321.2(RB1):c.265-6_265-4del rs780733860
NM_000321.2(RB1):c.2652A>C (p.Glu884Asp) rs765537411
NM_000321.2(RB1):c.2653G>A (p.Ala885Thr) rs752897010
NM_000321.2(RB1):c.2654C>A (p.Ala885Glu)
NM_000321.2(RB1):c.2656G>A (p.Asp886Asn) rs1460190600
NM_000321.2(RB1):c.2660G>A (p.Gly887Glu) rs1566241021
NM_000321.2(RB1):c.2677G>A (p.Gly893Arg) rs1566241168
NM_000321.2(RB1):c.2692C>T (p.Gln898Ter) rs1566241180
NM_000321.2(RB1):c.2694G>T (p.Gln898His) rs757275103
NM_000321.2(RB1):c.269G>T (p.Gly90Val) rs554727080
NM_000321.2(RB1):c.2712G>T (p.Met904Ile) rs1461167778
NM_000321.2(RB1):c.2726C>A (p.Thr909Lys) rs761999108
NM_000321.2(RB1):c.2729G>A (p.Arg910Gln)
NM_000321.2(RB1):c.2755A>G (p.Ser919Gly) rs1555295597
NM_000321.2(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000321.2(RB1):c.299G>C (p.Gly100Ala) rs886050268
NM_000321.2(RB1):c.301A>G (p.Ile101Val) rs1555282783
NM_000321.2(RB1):c.31G>T (p.Ala11Ser) rs587778852
NM_000321.2(RB1):c.32C>G (p.Ala11Gly) rs899323337
NM_000321.2(RB1):c.339G>A (p.Met113Ile)
NM_000321.2(RB1):c.341C>T (p.Ser114Leu) rs139673557
NM_000321.2(RB1):c.343T>C (p.Phe115Leu) rs1555282792
NM_000321.2(RB1):c.34A>G (p.Thr12Ala)
NM_000321.2(RB1):c.34A>T (p.Thr12Ser) rs1566174063
NM_000321.2(RB1):c.34_42del (p.9_11TAA[1]) rs759465865
NM_000321.2(RB1):c.356A>C (p.Glu119Ala) rs1347755761
NM_000321.2(RB1):c.367A>G (p.Asn123Asp) rs149800437
NM_000321.2(RB1):c.370A>G (p.Ile124Val)
NM_000321.2(RB1):c.383T>C (p.Val128Ala) rs1566186839
NM_000321.2(RB1):c.387T>G (p.His129Gln)
NM_000321.2(RB1):c.389A>C (p.Lys130Thr)
NM_000321.2(RB1):c.392T>C (p.Phe131Ser)
NM_000321.2(RB1):c.393C>G (p.Phe131Leu) rs749495284
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.2(RB1):c.44C>G (p.Ala15Gly)
NM_000321.2(RB1):c.474G>C (p.Leu158Phe) rs1319691084
NM_000321.2(RB1):c.501-3C>T
NM_000321.2(RB1):c.529C>T (p.Pro177Ser) rs1357310270
NM_000321.2(RB1):c.52G>A (p.Ala18Thr)
NM_000321.2(RB1):c.52G>T (p.Ala18Ser) rs528218090
NM_000321.2(RB1):c.536G>T (p.Ser179Ile) rs1566187849
NM_000321.2(RB1):c.547A>G (p.Thr183Ala)
NM_000321.2(RB1):c.552A>C (p.Glu184Asp) rs1220347917
NM_000321.2(RB1):c.562G>A (p.Ala188Thr) rs1189153218
NM_000321.2(RB1):c.578T>C (p.Val193Ala) rs1060503093
NM_000321.2(RB1):c.590C>A (p.Thr197Lys) rs1131690883
NM_000321.2(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.2(RB1):c.607G>C (p.Gly203Arg)
NM_000321.2(RB1):c.607G>T (p.Gly203Trp) rs1012377281
NM_000321.2(RB1):c.608-4del rs762805947
NM_000321.2(RB1):c.613G>A (p.Val205Ile) rs770100636
NM_000321.2(RB1):c.616T>C (p.Leu206=) rs886050270
NM_000321.2(RB1):c.628G>T (p.Asp210Tyr) rs148992508
NM_000321.2(RB1):c.62C>T (p.Pro21Leu) rs1444353743
NM_000321.2(RB1):c.652T>G (p.Leu218Val) rs1566191596
NM_000321.2(RB1):c.660A>G (p.Leu220=)
NM_000321.2(RB1):c.685C>T (p.Leu229Phe) rs766131342
NM_000321.2(RB1):c.689C>T (p.Ser230Leu)
NM_000321.2(RB1):c.694C>T (p.Pro232Ser) rs1195873978
NM_000321.2(RB1):c.697A>G (p.Met233Val) rs770860809
NM_000321.2(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000321.2(RB1):c.69_71GCC[5] (p.Pro29dup) rs587778823
NM_000321.2(RB1):c.718+5G>T rs1131690848
NM_000321.2(RB1):c.731T>C (p.Ile244Thr) rs147754935
NM_000321.2(RB1):c.752G>A (p.Arg251Gln)
NM_000321.2(RB1):c.761G>A (p.Arg254Lys)
NM_000321.2(RB1):c.770A>G (p.Gln257Arg) rs1232080974
NM_000321.2(RB1):c.782C>T (p.Ala261Val)
NM_000321.2(RB1):c.784C>T (p.Arg262Trp) rs556201144
NM_000321.2(RB1):c.78_83dup (p.Pro28_Pro29dup) rs1555279223
NM_000321.2(RB1):c.799C>G (p.Leu267Val)
NM_000321.2(RB1):c.807T>G (p.Asn269Lys) rs922948338
NM_000321.2(RB1):c.814A>G (p.Arg272Gly) rs1555284945
NM_000321.2(RB1):c.83C>G (p.Pro28Arg) rs776175164
NM_000321.2(RB1):c.83C>T (p.Pro28Leu)
NM_000321.2(RB1):c.850A>G (p.Asn284Asp) rs761609284
NM_000321.2(RB1):c.853A>G (p.Ile285Val)
NM_000321.2(RB1):c.862G>A (p.Val288Met) rs1555285117
NM_000321.2(RB1):c.867A>C (p.Lys289Asn) rs1555285126
NM_000321.2(RB1):c.881A>C (p.Lys294Thr)
NM_000321.2(RB1):c.88G>C (p.Glu30Gln) rs1555279228
NM_000321.2(RB1):c.890T>C (p.Ile297Thr)
NM_000321.2(RB1):c.897T>A (p.Phe299Leu)
NM_000321.2(RB1):c.898A>C (p.Met300Leu) rs1060503086
NM_000321.2(RB1):c.898A>G (p.Met300Val)
NM_000321.2(RB1):c.89A>C (p.Glu30Ala)
NM_000321.2(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000321.2(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000321.2(RB1):c.939+3A>T rs1555285148
NM_000321.2(RB1):c.940G>T (p.Val314Phe) rs1566194312
NM_000321.2(RB1):c.94G>A (p.Asp32Asn)
NM_000321.2(RB1):c.953C>G (p.Ser318Cys) rs886050271
NM_000321.2(RB1):c.958C>G (p.Arg320Gly)
NM_000321.2(RB1):c.959G>A (p.Arg320Gln) rs760787104
NM_000321.2(RB1):c.959G>T (p.Arg320Leu)
NM_000321.2(RB1):c.962A>G (p.Tyr321Cys) rs1566194338
NM_000321.2(RB1):c.976C>T (p.Leu326Phe) rs1566194351
NM_000321.2(RB1):c.982_987del (p.Asn328_Lys329del) rs878853952
NM_000321.2(RB1):c.98C>T (p.Pro33Leu) rs1201977804

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