ClinVar Miner

List of variants in gene RBM20 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 344
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2551-167C>T rs11195343 0.99964
NM_001134363.3(RBM20):c.3573+194A>G rs7895891 0.97073
NM_001134363.3(RBM20):c.3452-9= rs7070640 0.96872
NM_001134363.3(RBM20):c.1337+32G>A rs6585012 0.75089
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_001134363.3(RBM20):c.2550+225G>A rs1417634 0.55176
NM_001134363.3(RBM20):c.1338-36A>C rs7898438 0.54481
NM_001134363.3(RBM20):c.2656-153C>T rs10787283 0.53083
NM_001134363.3(RBM20):c.3451+234A>G rs4918595 0.49122
NM_001134363.3(RBM20):c.2550+168T>C rs1832745 0.44671
NM_001134363.3(RBM20):c.3452-237G>A rs4918601 0.43193
NM_001134363.3(RBM20):c.1276-259A>G rs12254016 0.42322
NM_001134363.3(RBM20):c.1800+336C>A rs7090878 0.42174
NM_001134363.3(RBM20):c.1668+264A>G rs12359298 0.39857
NM_001134363.3(RBM20):c.1669-256C>T rs7086491 0.38805
NM_001134363.3(RBM20):c.1880+23T>C rs11195338 0.31080
NM_001134363.3(RBM20):c.1429+154C>T rs7073950 0.21599
NM_001134363.3(RBM20):c.1527+8C>T rs7077757 0.21586
NM_001134363.3(RBM20):c.1275+34T>C rs61862866 0.21567
NM_001134363.3(RBM20):c.1275+36G>A rs61862867 0.21544
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_001134363.3(RBM20):c.1669-131G>A rs7086886 0.18979
NM_001134363.3(RBM20):c.1668+108C>T rs6585014 0.15973
NM_001134363.3(RBM20):c.1337+160G>A rs1570426 0.10850
NC_000010.11:g.110644335C>T rs12783859 0.05599
NM_001134363.3(RBM20):c.1881-214del rs140844165 0.04279
NM_001134363.3(RBM20):c.3316+243C>G rs61862920 0.03948
NM_001134363.3(RBM20):c.1528-205A>G rs74788397 0.03433
NM_001134363.3(RBM20):c.3452-41G>C rs74407586 0.03343
NM_001134363.3(RBM20):c.1338-237A>G rs55873340 0.03185
NM_001134363.3(RBM20):c.1338-234G>A rs7898501 0.02470
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.192-31G>A rs114622030 0.01739
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001134363.3(RBM20):c.1881-303G>A rs115263209 0.01552
NM_001134363.3(RBM20):c.191+106C>T rs114033006 0.01522
NM_001134363.3(RBM20):c.1527+22C>G rs182147793 0.01347
NM_001134363.3(RBM20):c.2656-189C>T rs113738936 0.01221
NM_001134363.3(RBM20):c.3316+188G>A rs111762102 0.01219
NM_001134363.3(RBM20):c.1275+148T>C rs145968231 0.00908
NM_001134363.3(RBM20):c.1527+159G>A rs115931926 0.00819
NM_001134363.3(RBM20):c.3574-187A>G rs115398660 0.00711
NM_001134363.3(RBM20):c.3317-21G>T rs755444840 0.00587
NM_001134363.3(RBM20):c.1337+166G>A rs117122797 0.00582
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001134363.3(RBM20):c.2656-304A>G rs139516832 0.00567
NM_001134363.3(RBM20):c.3316+259del rs376050210 0.00560
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001134363.3(RBM20):c.2550+268G>A rs79492956 0.00544
NM_001134363.3(RBM20):c.2656-226C>T rs191537519 0.00526
NM_001134363.3(RBM20):c.1429+129C>A rs142091562 0.00523
NC_000010.11:g.110644216G>A rs535032806 0.00437
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001134363.3(RBM20):c.2550+80G>A rs186175791 0.00399
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001134363.3(RBM20):c.3573+299T>C rs76806621 0.00389
NM_001134363.3(RBM20):c.3317-9G>T rs899956804 0.00373
NM_001134363.3(RBM20):c.3317-19C>T rs748164628 0.00371
NM_001134363.3(RBM20):c.1800+58C>T rs147966531 0.00370
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.3317-11A>T rs1398185643 0.00281
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.1528-16T>C rs191166138 0.00134
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.153G>T (p.Pro51=) rs760605118 0.00083
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.1451C>T (p.Thr484Ile) rs116442272 0.00063
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.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951 0.00031
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
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.1807G>A (p.Gly603Arg) rs558674954 0.00025
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.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) rs372048968 0.00016
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) rs764304126 0.00016
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys) rs562882648 0.00016
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.3513G>A (p.Thr1171=) rs184312864 0.00015
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.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001134363.3(RBM20):c.3573+16C>T rs772863559 0.00014
NM_001134363.3(RBM20):c.1050C>T (p.Tyr350=) rs778124998 0.00013
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser) rs923358109 0.00013
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.3044C>T (p.Thr1015Ile) rs183770014 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.304C>T (p.Arg102Trp) rs794729160 0.00010
NM_001134363.3(RBM20):c.2862C>T (p.Asp954=) rs751775695 0.00009
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_001134363.3(RBM20):c.7C>T (p.Leu3=) rs993059293 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.1113C>T (p.Ser371=) rs747651241 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys) rs886038886 0.00006
NM_001134363.3(RBM20):c.2736C>T (p.Asp912=) rs368136394 0.00006
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 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.1620G>A (p.Leu540=) rs1015562037 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser) rs1160693970 0.00004
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn) rs748133931 0.00004
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.1806C>T (p.Pro602=) rs367567507 0.00004
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001134363.3(RBM20):c.1881-19C>T rs574049321 0.00004
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp) rs199972578 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn) rs1029261119 0.00004
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=) rs755917660 0.00004
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln) rs886046699 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.42C>G (p.Ser14Arg) rs541043583 0.00004
NM_001134363.3(RBM20):c.57G>T (p.Pro19=) rs781263787 0.00004
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys) rs779777625 0.00004
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) rs921066961 0.00004
NM_001134363.3(RBM20):c.-6C>T rs397516589 0.00003
NM_001134363.3(RBM20):c.-8C>T rs1353505181 0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628 0.00003
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=) rs577194741 0.00003
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001134363.3(RBM20):c.2232C>T (p.Asn744=) rs975320203 0.00003
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) rs1045844360 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro) rs886038858 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu) rs1241224023 0.00003
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg) rs543478618 0.00003
NM_001134363.3(RBM20):c.901G>C (p.Ala301Pro) rs1064796938 0.00003
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg) rs199842148 0.00002
NM_001134363.3(RBM20):c.1545G>C (p.Gly515=) rs1208880928 0.00002
NM_001134363.3(RBM20):c.1617G>T (p.Gly539=) rs761674598 0.00002
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.1820C>T (p.Ala607Val) rs947755400 0.00002
NM_001134363.3(RBM20):c.2214G>A (p.Pro738=) rs1057523887 0.00002
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg) rs750988872 0.00002
NM_001134363.3(RBM20):c.2550+12T>C rs747168352 0.00002
NM_001134363.3(RBM20):c.2572G>A (p.Gly858Ser) rs1361625543 0.00002
NM_001134363.3(RBM20):c.2986G>T (p.Asp996Tyr) rs794729155 0.00002
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser) rs794729156 0.00002
NM_001134363.3(RBM20):c.3216C>T (p.Pro1072=) rs370346662 0.00002
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala) rs794729158 0.00002
NM_001134363.3(RBM20):c.3615C>T (p.Thr1205=) rs1290529555 0.00002
NM_001134363.3(RBM20):c.488G>A (p.Arg163Gln) rs794729139 0.00002
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala) rs996172004 0.00002
NM_001134363.3(RBM20):c.-19C>T rs1057521578 0.00001
NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys) rs794729142 0.00001
NM_001134363.3(RBM20):c.1095G>C (p.Gly365=) rs1554899000 0.00001
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln) rs777080028 0.00001
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr) rs886046703 0.00001
NM_001134363.3(RBM20):c.1162T>C (p.Leu388=) rs1047268912 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg) rs775062085 0.00001
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) rs369835514 0.00001
NM_001134363.3(RBM20):c.1668+12T>G rs1057521461 0.00001
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr) rs758772050 0.00001
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn) rs1444950975 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 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.1949C>T (p.Pro650Leu) rs899383029 0.00001
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp) rs1204905333 0.00001
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly) rs1051836531 0.00001
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu) rs550942448 0.00001
NM_001134363.3(RBM20):c.2172C>T (p.Asp724=) rs368933889 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001134363.3(RBM20):c.2287G>A (p.Glu763Lys) rs794729152 0.00001
NM_001134363.3(RBM20):c.237G>A (p.Pro79=) rs751872145 0.00001
NM_001134363.3(RBM20):c.2388C>G (p.Pro796=) rs1057522796 0.00001
NM_001134363.3(RBM20):c.2436T>A (p.Thr812=) rs748814058 0.00001
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly) rs371116877 0.00001
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu) rs368291152 0.00001
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys) rs112880805 0.00001
NM_001134363.3(RBM20):c.2835A>G (p.Thr945=) rs1043106270 0.00001
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=) rs587781138 0.00001
NM_001134363.3(RBM20):c.3205del (p.Arg1069fs) rs1844916553 0.00001
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val) rs748335429 0.00001
NM_001134363.3(RBM20):c.3489C>T (p.Cys1163=) rs1395153921 0.00001
NM_001134363.3(RBM20):c.3574-15C>T rs898223638 0.00001
NM_001134363.3(RBM20):c.3574-19T>C rs1057522723 0.00001
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp) rs1159249168 0.00001
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618 0.00001
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His) rs1421547378 0.00001
NM_001134363.3(RBM20):c.3677A>G (p.Lys1226Arg) rs1057524087 0.00001
NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr) rs1416612925 0.00001
NM_001134363.3(RBM20):c.468T>A (p.Ala156=) rs115379805 0.00001
NM_001134363.3(RBM20):c.555C>T (p.Asn185=) rs377139558 0.00001
NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu) rs1321284191 0.00001
NM_001134363.3(RBM20):c.620C>T (p.Pro207Leu) rs1185360800 0.00001
NM_001134363.3(RBM20):c.650G>T (p.Gly217Val) rs1189201346 0.00001
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile) rs794729140 0.00001
NM_001134363.3(RBM20):c.762G>A (p.Ser254=) rs1175327119 0.00001
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys) rs1339836806 0.00001
NM_001134363.3(RBM20):c.109_112del (p.Gly37fs) rs2134792820
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter) rs794729143
NM_001134363.3(RBM20):c.1172T>C (p.Val391Ala) rs567118667
NM_001134363.3(RBM20):c.1177C>A (p.Pro393Thr)
NM_001134363.3(RBM20):c.1183C>T (p.Gln395Ter) rs794729144
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del) rs756342135
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3]) rs1204097562
NM_001134363.3(RBM20):c.1338-10C>T rs1057523804
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup) rs1286990478
NM_001134363.3(RBM20):c.1527+2del rs1554899451
NM_001134363.3(RBM20):c.1527+36_1527+41del rs200035751
NM_001134363.3(RBM20):c.1527+49TTTA[3] rs375905616
NM_001134363.3(RBM20):c.1527+9G>A rs1057521554
NM_001134363.3(RBM20):c.1528-211AT[8] rs368264922
NM_001134363.3(RBM20):c.1528T>C (p.Phe510Leu)
NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup) rs1554886580
NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) rs794729145
NM_001134363.3(RBM20):c.1636A>G (p.Thr546Ala) rs2135073949
NM_001134363.3(RBM20):c.1668+8T>C rs755752098
NM_001134363.3(RBM20):c.1669-6_1669-3del rs903324770
NM_001134363.3(RBM20):c.166G>A (p.Ala56Thr)
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg) rs794729147
NM_001134363.3(RBM20):c.1801-146G>T rs73358993
NM_001134363.3(RBM20):c.1804C>A (p.Pro602Thr) rs1057524451
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del) rs794729163
NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn) rs794729149
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln) rs267607003
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) rs267607003
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.192-164del rs34363441
NM_001134363.3(RBM20):c.192-165_192-164del rs34363441
NM_001134363.3(RBM20):c.192-300G>A rs74158132
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) rs1554842673
NM_001134363.3(RBM20):c.19A>G (p.Met7Val) rs1590590851
NM_001134363.3(RBM20):c.2033dup (p.His678fs) rs2135104270
NM_001134363.3(RBM20):c.2043T>A (p.Tyr681Ter) rs376380567
NM_001134363.3(RBM20):c.2119T>A (p.Trp707Arg) rs1554842725
NM_001134363.3(RBM20):c.2132G>A (p.Arg711His) rs1448017649
NM_001134363.3(RBM20):c.2158A>G (p.Lys720Glu) rs794729151
NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile) rs1372553161
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2231A>T (p.Asn744Ile) rs755241667
NM_001134363.3(RBM20):c.2239C>G (p.His747Asp)
NM_001134363.3(RBM20):c.2291C>A (p.Pro764His) rs1036485472
NM_001134363.3(RBM20):c.2299A>C (p.Lys767Gln) rs775075323
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.2381G>C (p.Arg794Thr) rs893252924
NM_001134363.3(RBM20):c.2501dup (p.Asp834fs) rs794729159
NM_001134363.3(RBM20):c.2550+151A>G rs61862917
NM_001134363.3(RBM20):c.2550+7A>G rs1554842826
NM_001134363.3(RBM20):c.255A>C (p.Ser85=) rs587781136
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) rs794729153
NM_001134363.3(RBM20):c.2592_2595del (p.Ser865fs) rs2135118733
NM_001134363.3(RBM20):c.2605C>T (p.Gln869Ter) rs1564663888
NM_001134363.3(RBM20):c.2687del (p.Glu896fs) rs2135120754
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro) rs397516606
NM_001134363.3(RBM20):c.2736C>A (p.Asp912Glu) rs368136394
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.3(RBM20):c.2740G>C (p.Val914Leu) rs2135120928
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.2749G>A (p.Glu917Lys) rs1844907124
NM_001134363.3(RBM20):c.2763C>T (p.Ile921=) rs587781137
NM_001134363.3(RBM20):c.2869C>G (p.Leu957Val) rs794729141
NM_001134363.3(RBM20):c.2944A>G (p.Arg982Gly)
NM_001134363.3(RBM20):c.2988C>T (p.Asp996=) rs1249673177
NM_001134363.3(RBM20):c.3000T>A (p.Pro1000=) rs1057522142
NM_001134363.3(RBM20):c.3076G>C (p.Glu1026Gln)
NM_001134363.3(RBM20):c.3084G>A (p.Glu1028=) rs1057524093
NM_001134363.3(RBM20):c.3198C>G (p.Cys1066Trp)
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr) rs969716149
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs) rs760334885
NM_001134363.3(RBM20):c.3269T>C (p.Ile1090Thr) rs1316833587
NM_001134363.3(RBM20):c.3317-20C>T rs202039414
NM_001134363.3(RBM20):c.3317-27_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-28_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-30_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-31_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-33_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-34_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-35_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-36_3317-22del rs201149204
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.336C>T (p.Asn112=)
NM_001134363.3(RBM20):c.3440G>A (p.Ser1147Asn)
NM_001134363.3(RBM20):c.3451+277del rs72199900
NM_001134363.3(RBM20):c.3451+292_3451+293dup rs1338701346
NM_001134363.3(RBM20):c.3451+293dup rs1338701346
NM_001134363.3(RBM20):c.348del (p.Ala117fs)
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.3588G>A (p.Gln1196=) rs1554844949
NM_001134363.3(RBM20):c.517C>T (p.Pro173Ser)
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter) rs794729161
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr) rs2135042080
NM_001134363.3(RBM20):c.68C>T (p.Ala23Val) rs925693368
NM_001134363.3(RBM20):c.780T>G (p.Ser260Arg)
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) rs758718732
NM_001134363.3(RBM20):c.794_795dup (p.His266fs) rs1564844065
NM_001134363.3(RBM20):c.817G>C (p.Asp273His)
NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg) rs2135043435
NM_001134363.3(RBM20):c.968A>G (p.His323Arg) rs568559249
NM_001134363.3(RBM20):c.975C>A (p.Phe325Leu)
NM_001134363.3(RBM20):c.98del (p.Pro33fs) rs1413443268

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