ClinVar Miner

List of variants in gene RBM20 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
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.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
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.1451C>T (p.Thr484Ile) rs116442272 0.00063
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.1057G>A (p.Glu353Lys) rs554690506 0.00031
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.114G>T (p.Pro38=) rs571013198 0.00027
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.3633G>A (p.Pro1211=) rs781373863 0.00019
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) rs751559376 0.00016
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) rs764304126 0.00016
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=) rs184312864 0.00015
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=) rs727505095 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.1050C>T (p.Tyr350=) rs778124998 0.00013
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=) rs562290651 0.00012
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916 0.00011
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
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.3279C>T (p.Asp1093=) rs1003478669 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.1053C>T (p.Asp351=) rs192232825 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.882C>T (p.Ser294=) rs374921844 0.00007
NM_001134363.3(RBM20):c.1113C>T (p.Ser371=) rs747651241 0.00006
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) rs374299043 0.00006
NM_001134363.3(RBM20):c.2736C>T (p.Asp912=) rs368136394 0.00006
NM_001134363.3(RBM20):c.3075C>T (p.Tyr1025=) rs777886957 0.00006
NM_001134363.3(RBM20):c.3462C>T (p.Phe1154=) rs371172286 0.00006
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser) rs375200447 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.1620G>A (p.Leu540=) rs1015562037 0.00005
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=) rs1446760969 0.00005
NM_001134363.3(RBM20):c.1996C>T (p.Arg666Trp) rs570820786 0.00005
NM_001134363.3(RBM20):c.2691G>A (p.Gly897=) rs549274248 0.00005
NM_001134363.3(RBM20):c.3273A>G (p.Glu1091=) rs886458288 0.00005
NM_001134363.3(RBM20):c.399C>T (p.Leu133=) rs746776894 0.00005
NM_001134363.3(RBM20):c.540C>T (p.Pro180=) rs576099332 0.00005
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser) rs1160693970 0.00004
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=) rs397516594 0.00004
NM_001134363.3(RBM20):c.1767G>T (p.Arg589=) rs929489764 0.00004
NM_001134363.3(RBM20):c.1791G>A (p.Leu597=) rs201432122 0.00004
NM_001134363.3(RBM20):c.1806C>T (p.Pro602=) rs367567507 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.2991G>A (p.Val997=) rs756276591 0.00004
NM_001134363.3(RBM20):c.3204C>G (p.Thr1068=) rs746444255 0.00004
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg) rs772708424 0.00004
NM_001134363.3(RBM20):c.3594C>T (p.Ala1198=) rs758908115 0.00004
NM_001134363.3(RBM20):c.363C>T (p.Asn121=) rs727504930 0.00004
NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln) rs561085365 0.00004
NM_001134363.3(RBM20):c.57G>T (p.Pro19=) rs781263787 0.00004
NM_001134363.3(RBM20):c.801C>T (p.Tyr267=) rs879437834 0.00004
NM_001134363.3(RBM20):c.933G>C (p.Leu311=) rs761015603 0.00004
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) rs921066961 0.00004
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=) rs397516590 0.00003
NM_001134363.3(RBM20):c.1171G>A (p.Val391Met) rs763101142 0.00003
NM_001134363.3(RBM20):c.1221C>G (p.Pro407=) rs1243243290 0.00003
NM_001134363.3(RBM20):c.1308C>T (p.His436=) rs189600634 0.00003
NM_001134363.3(RBM20):c.168C>T (p.Ala56=) rs1424130999 0.00003
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=) rs577194741 0.00003
NM_001134363.3(RBM20):c.2043T>C (p.Tyr681=) rs376380567 0.00003
NM_001134363.3(RBM20):c.2076C>T (p.Pro692=) rs940799642 0.00003
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser) rs755241667 0.00003
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) rs1045844360 0.00003
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=) rs397516605 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.3125C>T (p.Thr1042Ile) rs757326885 0.00003
NM_001134363.3(RBM20):c.3189G>A (p.Val1063=) rs1179002998 0.00003
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg) rs543478618 0.00003
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser) rs1041725339 0.00003
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg) rs199842148 0.00002
NM_001134363.3(RBM20):c.1209C>T (p.His403=) rs397516592 0.00002
NM_001134363.3(RBM20):c.1542A>G (p.Lys514=) rs1463897410 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.1953C>T (p.Ser651=) rs1464394104 0.00002
NM_001134363.3(RBM20):c.2214G>A (p.Pro738=) rs1057523887 0.00002
NM_001134363.3(RBM20):c.2709T>A (p.Thr903=) rs1481403925 0.00002
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met) rs947100716 0.00002
NM_001134363.3(RBM20):c.2814A>G (p.Lys938=) rs1022202424 0.00002
NM_001134363.3(RBM20):c.3216C>T (p.Pro1072=) rs370346662 0.00002
NM_001134363.3(RBM20):c.3615C>T (p.Thr1205=) rs1290529555 0.00002
NM_001134363.3(RBM20):c.978G>A (p.Ser326=) rs930912173 0.00002
NM_001134363.3(RBM20):c.1080A>T (p.Thr360=) rs397516591 0.00001
NM_001134363.3(RBM20):c.1092C>T (p.Phe364=) rs1233226046 0.00001
NM_001134363.3(RBM20):c.1162T>C (p.Leu388=) rs1047268912 0.00001
NM_001134363.3(RBM20):c.1200C>T (p.Asn400=) rs1291756505 0.00001
NM_001134363.3(RBM20):c.1218C>A (p.Ala406=) rs1289041673 0.00001
NM_001134363.3(RBM20):c.1221C>A (p.Pro407=) rs1243243290 0.00001
NM_001134363.3(RBM20):c.126G>A (p.Gln42=) rs925187151 0.00001
NM_001134363.3(RBM20):c.1290T>C (p.His430=) rs1298729197 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1380G>A (p.Leu460=) rs757011562 0.00001
NM_001134363.3(RBM20):c.1517T>C (p.Val506Ala) rs1590677685 0.00001
NM_001134363.3(RBM20):c.1554T>A (p.Arg518=) rs1237509064 0.00001
NM_001134363.3(RBM20):c.1557G>A (p.Val519=) rs1049924561 0.00001
NM_001134363.3(RBM20):c.1593T>A (p.Thr531=) rs955486548 0.00001
NM_001134363.3(RBM20):c.1701A>G (p.Ala567=) rs557873670 0.00001
NM_001134363.3(RBM20):c.1830C>A (p.Ile610=) rs1043758571 0.00001
NM_001134363.3(RBM20):c.1881A>G (p.Arg627=) rs1482868696 0.00001
NM_001134363.3(RBM20):c.1935G>A (p.Pro645=) rs184428735 0.00001
NM_001134363.3(RBM20):c.2031G>A (p.Glu677=) rs1177135320 0.00001
NM_001134363.3(RBM20):c.2172C>T (p.Asp724=) rs368933889 0.00001
NM_001134363.3(RBM20):c.219A>G (p.Pro73=) rs1355159778 0.00001
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro) rs1361123068 0.00001
NM_001134363.3(RBM20):c.2271C>T (p.Asp757=) rs1168255004 0.00001
NM_001134363.3(RBM20):c.2337C>T (p.Pro779=) rs1179283749 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.2514T>C (p.Ala838=) rs794727966 0.00001
NM_001134363.3(RBM20):c.2616A>G (p.Glu872=) rs1356159353 0.00001
NM_001134363.3(RBM20):c.261C>T (p.Ala87=) rs886038415 0.00001
NM_001134363.3(RBM20):c.2847G>C (p.Val949=) rs1379129358 0.00001
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=) rs587781138 0.00001
NM_001134363.3(RBM20):c.294C>G (p.Leu98=) rs1590673849 0.00001
NM_001134363.3(RBM20):c.3096G>A (p.Val1032=) rs768655519 0.00001
NM_001134363.3(RBM20):c.3099G>A (p.Glu1033=) rs1463977943 0.00001
NM_001134363.3(RBM20):c.313C>T (p.Leu105=) rs397516611 0.00001
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys) rs959605686 0.00001
NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=) rs991930637 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.3402G>A (p.Leu1134=) rs1437581340 0.00001
NM_001134363.3(RBM20):c.3516C>T (p.Ser1172=) rs781463840 0.00001
NM_001134363.3(RBM20):c.3555C>A (p.Val1185=) rs545855573 0.00001
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=) rs892459274 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.420G>A (p.Pro140=) rs776692347 0.00001
NM_001134363.3(RBM20):c.468T>A (p.Ala156=) rs115379805 0.00001
NM_001134363.3(RBM20):c.522C>A (p.Pro174=) rs890687647 0.00001
NM_001134363.3(RBM20):c.600T>G (p.Thr200=) rs876657571 0.00001
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr) rs1033220280 0.00001
NM_001134363.3(RBM20):c.717A>T (p.Thr239=) rs886046700 0.00001
NM_001134363.3(RBM20):c.735T>C (p.Asp245=) rs548804547 0.00001
NM_001134363.3(RBM20):c.762G>A (p.Ser254=) rs1175327119 0.00001
NM_001134363.3(RBM20):c.822T>C (p.Gly274=) rs1209966955 0.00001
NM_001134363.3(RBM20):c.999C>G (p.Leu333=) rs1284279454 0.00001
NM_001134363.3(RBM20):c.1020T>A (p.Pro340=)
NM_001134363.3(RBM20):c.1029C>T (p.His343=) rs1844351084
NM_001134363.3(RBM20):c.1056C>T (p.Pro352=) rs397516590
NM_001134363.3(RBM20):c.114G>A (p.Pro38=)
NM_001134363.3(RBM20):c.1172T>C (p.Val391Ala) rs567118667
NM_001134363.3(RBM20):c.1176G>A (p.Arg392=)
NM_001134363.3(RBM20):c.117A>G (p.Arg39=)
NM_001134363.3(RBM20):c.1186G>A (p.Ala396Thr)
NM_001134363.3(RBM20):c.120G>A (p.Gly40=)
NM_001134363.3(RBM20):c.1270T>C (p.Leu424=)
NM_001134363.3(RBM20):c.1278C>T (p.Asp426=)
NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del) rs756342135
NM_001134363.3(RBM20):c.129GCC[6] (p.Pro48dup) rs756342135
NM_001134363.3(RBM20):c.1311T>C (p.Ala437=) rs1590676575
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3]) rs1204097562
NM_001134363.3(RBM20):c.1353T>C (p.Cys451=)
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.3(RBM20):c.1371G>A (p.Glu457=)
NM_001134363.3(RBM20):c.1419T>C (p.Ala473=)
NM_001134363.3(RBM20):c.141G>C (p.Pro47=)
NM_001134363.3(RBM20):c.1424A>G (p.Asn475Ser)
NM_001134363.3(RBM20):c.1435G>A (p.Ala479Thr)
NM_001134363.3(RBM20):c.1437C>T (p.Ala479=)
NM_001134363.3(RBM20):c.147G>A (p.Gln49=)
NM_001134363.3(RBM20):c.159G>C (p.Pro53=)
NM_001134363.3(RBM20):c.159G>T (p.Pro53=)
NM_001134363.3(RBM20):c.15A>T (p.Ala5=) rs1267175101
NM_001134363.3(RBM20):c.1671C>T (p.Ala557=)
NM_001134363.3(RBM20):c.1689C>T (p.Tyr563=)
NM_001134363.3(RBM20):c.1695A>G (p.Glu565=)
NM_001134363.3(RBM20):c.172C>T (p.Leu58=)
NM_001134363.3(RBM20):c.1731A>G (p.Lys577=)
NM_001134363.3(RBM20):c.1779A>G (p.Arg593=)
NM_001134363.3(RBM20):c.1813G>A (p.Ala605Thr) rs1342793239
NM_001134363.3(RBM20):c.1833G>A (p.Gln611=) rs1361347193
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1884T>C (p.Tyr628=)
NM_001134363.3(RBM20):c.1890A>G (p.Pro630=)
NM_001134363.3(RBM20):c.1900C>A (p.Arg634=) rs796734066
NM_001134363.3(RBM20):c.1923G>A (p.Arg641=)
NM_001134363.3(RBM20):c.192T>C (p.Asn64=)
NM_001134363.3(RBM20):c.195C>T (p.Ala65=)
NM_001134363.3(RBM20):c.1965C>T (p.Cys655=)
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) rs1554842673
NM_001134363.3(RBM20):c.2001T>C (p.Ala667=) rs1844780588
NM_001134363.3(RBM20):c.2088C>T (p.Asn696=)
NM_001134363.3(RBM20):c.2097C>T (p.Asp699=)
NM_001134363.3(RBM20):c.2113G>A (p.Asp705Asn) rs995493100
NM_001134363.3(RBM20):c.2205G>A (p.Glu735=) rs1844785808
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.225G>C (p.Ser75=)
NM_001134363.3(RBM20):c.2314C>T (p.Leu772=)
NM_001134363.3(RBM20):c.2346C>G (p.Ser782=) rs894709573
NM_001134363.3(RBM20):c.2367G>A (p.Arg789=)
NM_001134363.3(RBM20):c.2382A>G (p.Arg794=) rs999008497
NM_001134363.3(RBM20):c.2451C>A (p.Gly817=)
NM_001134363.3(RBM20):c.2463G>A (p.Lys821=)
NM_001134363.3(RBM20):c.2493T>A (p.Thr831=)
NM_001134363.3(RBM20):c.2502C>T (p.Asp834=) rs1695186546
NM_001134363.3(RBM20):c.2517T>C (p.Asp839=) rs727504467
NM_001134363.3(RBM20):c.2535A>G (p.Thr845=)
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.2586C>T (p.Ser862=)
NM_001134363.3(RBM20):c.258T>G (p.Pro86=)
NM_001134363.3(RBM20):c.2632C>A (p.Pro878Thr)
NM_001134363.3(RBM20):c.2640C>T (p.Asn880=)
NM_001134363.3(RBM20):c.2679T>C (p.Ser893=)
NM_001134363.3(RBM20):c.267C>G (p.Leu89=)
NM_001134363.3(RBM20):c.2718G>A (p.Glu906=)
NM_001134363.3(RBM20):c.2826C>T (p.Cys942=)
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu) rs1554843535
NM_001134363.3(RBM20):c.2949A>G (p.Glu983=)
NM_001134363.3(RBM20):c.2961T>G (p.Ala987=)
NM_001134363.3(RBM20):c.2973T>C (p.Cys991=)
NM_001134363.3(RBM20):c.2988C>T (p.Asp996=) rs1249673177
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001134363.3(RBM20):c.2994A>G (p.Glu998=)
NM_001134363.3(RBM20):c.3037A>T (p.Ser1013Cys)
NM_001134363.3(RBM20):c.3039T>C (p.Ser1013=)
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.304C>A (p.Arg102=)
NM_001134363.3(RBM20):c.3060G>A (p.Glu1020=)
NM_001134363.3(RBM20):c.3062A>G (p.Asp1021Gly)
NM_001134363.3(RBM20):c.3063T>C (p.Asp1021=)
NM_001134363.3(RBM20):c.3135A>G (p.Gln1045=)
NM_001134363.3(RBM20):c.3156A>G (p.Ala1052=) rs2135122217
NM_001134363.3(RBM20):c.3171G>T (p.Arg1057=) rs886038875
NM_001134363.3(RBM20):c.3225G>T (p.Gly1075=)
NM_001134363.3(RBM20):c.3249G>A (p.Glu1083=) rs2135122572
NM_001134363.3(RBM20):c.3256G>A (p.Ala1086Thr)
NM_001134363.3(RBM20):c.3264C>T (p.Pro1088=) rs1844918076
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met) rs77110978
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.3360A>G (p.Ser1120=)
NM_001134363.3(RBM20):c.3381A>G (p.Glu1127=)
NM_001134363.3(RBM20):c.3405C>T (p.Pro1135=)
NM_001134363.3(RBM20):c.3420G>A (p.Glu1140=)
NM_001134363.3(RBM20):c.3447T>C (p.Pro1149=)
NM_001134363.3(RBM20):c.3456G>A (p.Val1152=)
NM_001134363.3(RBM20):c.3492G>A (p.Lys1164=) rs1320944657
NM_001134363.3(RBM20):c.351C>A (p.Ala117=)
NM_001134363.3(RBM20):c.351C>G (p.Ala117=)
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.3594C>G (p.Ala1198=)
NM_001134363.3(RBM20):c.3615C>G (p.Thr1205=)
NM_001134363.3(RBM20):c.3654C>T (p.Ile1218=) rs1235947843
NM_001134363.3(RBM20):c.36C>T (p.Asp12=)
NM_001134363.3(RBM20):c.420G>T (p.Pro140=)
NM_001134363.3(RBM20):c.472G>A (p.Ala158Thr)
NM_001134363.3(RBM20):c.475A>G (p.Ile159Val)
NM_001134363.3(RBM20):c.532C>A (p.Arg178=) rs794729161
NM_001134363.3(RBM20):c.564C>T (p.Asn188=)
NM_001134363.3(RBM20):c.606A>G (p.Val202=)
NM_001134363.3(RBM20):c.60C>T (p.Asp20=)
NM_001134363.3(RBM20):c.669A>G (p.Pro223=)
NM_001134363.3(RBM20):c.693T>C (p.Tyr231=)
NM_001134363.3(RBM20):c.705C>T (p.Ser235=)
NM_001134363.3(RBM20):c.771C>T (p.Thr257=)
NM_001134363.3(RBM20):c.831C>T (p.Ala277=)
NM_001134363.3(RBM20):c.873T>C (p.His291=)
NM_001134363.3(RBM20):c.916A>G (p.Ser306Gly)
NM_001134363.3(RBM20):c.934C>T (p.Leu312=)

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