ClinVar Miner

List of variants in gene RBM20 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 135
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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.2655+15A>G rs187915202 0.00436
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.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.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.114G>T (p.Pro38=) rs571013198 0.00027
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.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.1418C>T (p.Ala473Val) rs727503387 0.00010
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001134363.3(RBM20):c.3451+14A>G rs774391134 0.00009
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
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.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) rs374299043 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 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.774G>A (p.Ser258=) rs569846404 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.2634G>A (p.Pro878=) rs755917660 0.00004
NM_001134363.3(RBM20):c.2916G>A (p.Gly972=) rs1391384955 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 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.-6C>T rs397516589 0.00003
NM_001134363.3(RBM20):c.1171G>A (p.Val391Met) rs763101142 0.00003
NM_001134363.3(RBM20):c.1308C>T (p.His436=) rs189600634 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.1617G>T (p.Gly539=) rs761674598 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.1162T>C (p.Leu388=) rs1047268912 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.135G>C (p.Pro45=) rs1564804199 0.00001
NM_001134363.3(RBM20):c.1430-6A>G rs1290286261 0.00001
NM_001134363.3(RBM20):c.1482C>T (p.Phe494=) rs1844400442 0.00001
NM_001134363.3(RBM20):c.2172C>T (p.Asp724=) rs368933889 0.00001
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser) rs1371567866 0.00001
NM_001134363.3(RBM20):c.2337C>T (p.Pro779=) rs1179283749 0.00001
NM_001134363.3(RBM20):c.237G>A (p.Pro79=) rs751872145 0.00001
NM_001134363.3(RBM20):c.2424G>T (p.Gly808=) rs1221011995 0.00001
NM_001134363.3(RBM20):c.2567A>C (p.Gln856Pro) rs1442388691 0.00001
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=) rs587781138 0.00001
NM_001134363.3(RBM20):c.3315G>A (p.Pro1105=) rs772179438 0.00001
NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=) rs991930637 0.00001
NM_001134363.3(RBM20):c.762G>A (p.Ser254=) rs1175327119 0.00001
NM_001134363.3(RBM20):c.1056C>T (p.Pro352=) rs397516590
NM_001134363.3(RBM20):c.1101G>T (p.Arg367=) rs796631295
NM_001134363.3(RBM20):c.1172T>C (p.Val391Ala) rs567118667
NM_001134363.3(RBM20):c.1173G>A (p.Val391=) rs952272688
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.138G>C (p.Pro46=) rs2134793051
NM_001134363.3(RBM20):c.1430-20_1430-19del rs749067157
NM_001134363.3(RBM20):c.146A>C (p.Gln49Pro) rs1554886578
NM_001134363.3(RBM20):c.146_147del (p.Gln49fs) rs2134793110
NM_001134363.3(RBM20):c.150A>C (p.Pro50=) rs376936285
NM_001134363.3(RBM20):c.1527+18T>G rs2135051286
NM_001134363.3(RBM20):c.1527+49TTTA[3] rs375905616
NM_001134363.3(RBM20):c.164A>C (p.Gln55Pro) rs1173440443
NM_001134363.3(RBM20):c.1669-6_1669-3del rs903324770
NM_001134363.3(RBM20):c.1801-146G>T rs73358993
NM_001134363.3(RBM20):c.186C>A (p.Ile62=) rs2134793364
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.192-300G>A rs74158132
NM_001134363.3(RBM20):c.195C>T (p.Ala65=)
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) rs1554842673
NM_001134363.3(RBM20):c.2196C>T (p.Pro732=) rs1554842740
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2550+151A>G rs61862917
NM_001134363.3(RBM20):c.3317-20C>T rs202039414
NM_001134363.3(RBM20):c.3317-27_3317-22del rs201149204
NM_001134363.3(RBM20):c.3317-31_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.3317-4G>T rs1273437400
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.906G>T (p.Gly302=) rs1379882102

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