ClinVar Miner

List of variants in gene RBM20 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3452-9= rs7070640 0.96872
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_001134363.3(RBM20):c.1527+8C>T rs7077757 0.21586
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00051
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln) rs372923744 0.00026
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) rs376071070 0.00016
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) rs375355193 0.00016
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=) rs727505095 0.00014
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00014
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=) rs562290651 0.00012
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387 0.00010
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001134363.3(RBM20):c.3279C>T (p.Asp1093=) rs1003478669 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001134363.3(RBM20):c.1338-11G>A rs372064165 0.00004
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=) rs397516594 0.00004
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) rs561904103 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001134363.3(RBM20):c.363C>T (p.Asn121=) rs727504930 0.00004
NM_001134363.3(RBM20):c.441C>T (p.His147=) rs397516619 0.00004
NM_001134363.3(RBM20):c.-6C>T rs397516589 0.00003
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=) rs397516590 0.00003
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=) rs397516605 0.00003
NM_001134363.3(RBM20):c.1209C>T (p.His403=) rs397516592 0.00002
NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu) rs876657972 0.00002
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met) rs397516595 0.00002
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) rs397516602 0.00002
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg) rs750988872 0.00002
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser) rs1479765434 0.00002
NM_001134363.3(RBM20):c.3603C>G (p.Gly1201=) rs397516617 0.00002
NM_001134363.3(RBM20):c.409C>T (p.Leu137=) rs876657570 0.00002
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) rs766779254 0.00002
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001134363.3(RBM20):c.1080A>T (p.Thr360=) rs397516591 0.00001
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg) rs727505308 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) rs774916799 0.00001
NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln) rs876657974 0.00001
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu) rs993569055 0.00001
NM_001134363.3(RBM20):c.1761C>T (p.Leu587=) rs727504820 0.00001
NM_001134363.3(RBM20):c.1812G>A (p.Lys604=) rs751318089 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys) rs397516598 0.00001
NM_001134363.3(RBM20):c.2070G>A (p.Pro690=) rs890520365 0.00001
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys) rs397516600 0.00001
NM_001134363.3(RBM20):c.3022C>T (p.Arg1008Trp) rs397516610 0.00001
NM_001134363.3(RBM20):c.313C>T (p.Leu105=) rs397516611 0.00001
NM_001134363.3(RBM20):c.3183A>G (p.Pro1061=) rs397516612 0.00001
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=) rs397516613 0.00001
NM_001134363.3(RBM20):c.3372T>C (p.Thr1124=) rs397516614 0.00001
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val) rs371754487 0.00001
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618 0.00001
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp) rs727504943 0.00001
NM_001134363.3(RBM20):c.600T>G (p.Thr200=) rs876657571 0.00001
NM_001134363.3(RBM20):c.-16G>T rs876657975
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His) rs372999896
NM_001134363.3(RBM20):c.1190A>C (p.His397Pro) rs727505262
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1266T>C (p.Phe422=) rs727504737
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser) rs1554886574
NM_001134363.3(RBM20):c.1516G>A (p.Val506Met) rs1590677676
NM_001134363.3(RBM20):c.1519G>A (p.Gly507Arg) rs727503386
NM_001134363.3(RBM20):c.1612C>T (p.Leu538=) rs876657569
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys) rs794729147
NM_001134363.3(RBM20):c.1779A>T (p.Arg593Ser) rs876657973
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2001T>C (p.Ala667=) rs1844780588
NM_001134363.3(RBM20):c.2161G>T (p.Ala721Ser) rs876657976
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del) rs876657977
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2286dup (p.Glu763fs) rs876657978
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.2517T>C (p.Asp839=) rs727504467
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro) rs397516604
NM_001134363.3(RBM20):c.2727_2741del (p.Thr910_Val914del) rs876657979
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro) rs397516606
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.2784G>A (p.Glu928=) rs397516609
NM_001134363.3(RBM20):c.2844T>C (p.Cys948=) rs727503389
NM_001134363.3(RBM20):c.2855C>T (p.Thr952Ile) rs727503390
NM_001134363.3(RBM20):c.3031G>A (p.Ala1011Thr) rs727503391
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3451+10AC[2] rs397516615
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys) rs727504583
NM_001134363.3(RBM20):c.441C>A (p.His147Gln) rs397516619
NM_001134363.3(RBM20):c.465T>C (p.His155=) rs397516620
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg) rs183130427
NM_001134363.3(RBM20):c.56C>G (p.Pro19Arg) rs727504766
NM_001134363.3(RBM20):c.746G>T (p.Gly249Val) rs397516623
NM_001134363.3(RBM20):c.831C>G (p.Ala277=) rs397516624

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