ClinVar Miner

List of variants in gene RB1 studied for not specified

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.500+23T>G rs198617 0.93273
NM_000321.3(RB1):c.2663+33C>T rs3020646 0.90292
NM_000321.3(RB1):c.380+45C>T rs520342 0.21231
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.2490-1323C>T rs55926808 0.01180
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.862-15C>A rs115108608 0.00442
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
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.1961-12T>C rs201697122 0.00104
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.1140C>T (p.Asn380=) rs117865557 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.1390-16A>T rs781419356 0.00018
NM_000321.3(RB1):c.264+20G>A rs200985890 0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
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.1764T>A (p.Ser588=) rs542783532 0.00006
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr) rs587778640 0.00004
NM_000321.3(RB1):c.173C>T (p.Thr58Ile) rs138574644 0.00004
NM_000321.3(RB1):c.1814+11T>C rs771369373 0.00004
NM_000321.3(RB1):c.2521-9A>C rs949077145 0.00003
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys) rs143105337 0.00003
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile) rs587778641 0.00002
NM_000321.3(RB1):c.2491A>G (p.Ile831Val) rs761068783 0.00002
NM_000321.3(RB1):c.-149G>T rs1014776340 0.00001
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser) rs751263356 0.00001
NM_000321.3(RB1):c.1128-5del rs886038280 0.00001
NM_000321.3(RB1):c.1489A>G (p.Thr497Ala) rs776531398 0.00001
NM_000321.3(RB1):c.2242G>A (p.Glu748Lys) rs121913297 0.00001
NM_000321.3(RB1):c.2318C>T (p.Ser773Phe) rs267603841 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser) rs1952727399
NM_000321.3(RB1):c.1131T>C (p.Thr377=) rs1414284893
NM_000321.3(RB1):c.1390-17dup rs753535084
NM_000321.3(RB1):c.1390-2A>G rs1555286568
NM_000321.3(RB1):c.13A>C (p.Thr5Pro) rs898303682
NM_000321.3(RB1):c.1422-8del rs747048469
NM_000321.3(RB1):c.1462G>A (p.Ala488Thr)
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000321.3(RB1):c.1677A>T (p.Glu559Asp) rs587778639
NM_000321.3(RB1):c.1753C>T (p.His585Tyr) rs1401332173
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.3(RB1):c.2106+16A>C
NM_000321.3(RB1):c.2106+17C>A
NM_000321.3(RB1):c.2106+17C>G
NM_000321.3(RB1):c.2212-16del
NM_000321.3(RB1):c.2212-16dup rs553094345
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000321.3(RB1):c.2260G>C (p.Val754Leu) rs587778642
NM_000321.3(RB1):c.2325+10A>G rs763525092
NM_000321.3(RB1):c.264+22T>G
NM_000321.3(RB1):c.43G>C (p.Ala15Pro) rs587778638
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.608-4del rs762805947

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