ClinVar Miner

List of variants in gene RBM20 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.1881-303G>A rs115263209 0.01552
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.2656-304A>G rs139516832 0.00567
NM_001134363.3(RBM20):c.3316+259del rs376050210 0.00560
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.2550+80G>A rs186175791 0.00399
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.3317-11A>T rs1398185643 0.00281
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.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.153G>T (p.Pro51=) rs760605118 0.00083
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.3648C>T (p.Ser1216=) rs554167951 0.00031
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.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) rs764304126 0.00016
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) rs375355193 0.00016
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.3177A>G (p.Pro1059=) rs562290651 0.00012
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387 0.00010
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.1113C>T (p.Ser371=) rs747651241 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.2736C>T (p.Asp912=) rs368136394 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.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001134363.3(RBM20):c.1620G>A (p.Leu540=) rs1015562037 0.00005
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.1881-19C>T rs574049321 0.00004
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=) rs755917660 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.57G>T (p.Pro19=) rs781263787 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.2358C>T (p.Asp786=) rs1045844360 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.2214G>A (p.Pro738=) rs1057523887 0.00002
NM_001134363.3(RBM20):c.2550+12T>C rs747168352 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.488G>A (p.Arg163Gln) rs794729139 0.00002
NM_001134363.3(RBM20):c.-19C>T rs1057521578 0.00001
NM_001134363.3(RBM20):c.1095G>C (p.Gly365=) rs1554899000 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.1668+12T>G rs1057521461 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.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.2835A>G (p.Thr945=) rs1043106270 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.468T>A (p.Ala156=) rs115379805 0.00001
NM_001134363.3(RBM20):c.555C>T (p.Asn185=) rs377139558 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.1172T>C (p.Val391Ala) rs567118667
NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del) rs756342135
NM_001134363.3(RBM20):c.1338-10C>T rs1057523804
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.3(RBM20):c.1527+49TTTA[3] rs375905616
NM_001134363.3(RBM20):c.1527+9G>A rs1057521554
NM_001134363.3(RBM20):c.1668+8T>C rs755752098
NM_001134363.3(RBM20):c.1669-6_1669-3del rs903324770
NM_001134363.3(RBM20):c.1801-146G>T rs73358993
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.192-300G>A rs74158132
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) rs1554842673
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.2550+151A>G rs61862917
NM_001134363.3(RBM20):c.2550+7A>G rs1554842826
NM_001134363.3(RBM20):c.2869C>G (p.Leu957Val) rs794729141
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.3084G>A (p.Glu1028=) rs1057524093
NM_001134363.3(RBM20):c.3317-27_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.3317-36_3317-22del rs201149204
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.3451+292_3451+293dup rs1338701346
NM_001134363.3(RBM20):c.3588G>A (p.Gln1196=) rs1554844949
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) rs758718732

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