ClinVar Miner

List of variants in gene SMARCE1 reported as likely benign for central nervous system neoplasm

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_003079.5(SMARCE1):c.157-4G>A rs141832779 0.00032
NM_003079.5(SMARCE1):c.300T>A (p.Ile100=) rs143363725 0.00024
NM_003079.5(SMARCE1):c.1122C>T (p.Val374=) rs144057094 0.00016
NM_003079.5(SMARCE1):c.933T>C (p.Ala311=) rs141470385 0.00016
NM_003079.5(SMARCE1):c.579C>T (p.Thr193=) rs201484943 0.00012
NM_003079.5(SMARCE1):c.999A>G (p.Lys333=) rs372423633 0.00008
NM_003079.5(SMARCE1):c.135G>A (p.Pro45=) rs148373393 0.00007
NM_003079.5(SMARCE1):c.1017G>A (p.Pro339=) rs372446330 0.00006
NM_003079.5(SMARCE1):c.1209C>T (p.Pro403=) rs761485678 0.00006
NM_003079.5(SMARCE1):c.921C>T (p.Ala307=) rs888776519 0.00006
NM_003079.5(SMARCE1):c.1167G>A (p.Ser389=) rs755995632 0.00005
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=) rs767262463 0.00004
NM_003079.5(SMARCE1):c.1173C>T (p.Ser391=) rs377096761 0.00004
NM_003079.5(SMARCE1):c.642C>T (p.Asp214=) rs186493032 0.00004
NM_003079.5(SMARCE1):c.715-6T>G rs560583293 0.00004
NM_003079.5(SMARCE1):c.817-18C>G rs774207941 0.00004
NM_003079.5(SMARCE1):c.168T>C (p.Gly56=) rs773059312 0.00003
NM_003079.5(SMARCE1):c.207G>A (p.Pro69=) rs373563447 0.00003
NM_003079.5(SMARCE1):c.531A>G (p.Glu177=) rs377424178 0.00003
NM_003079.5(SMARCE1):c.542-11G>A rs777566198 0.00003
NM_003079.5(SMARCE1):c.762G>A (p.Glu254=) rs374977780 0.00003
NM_003079.5(SMARCE1):c.1002C>T (p.Asp334=) rs750483952 0.00002
NM_003079.5(SMARCE1):c.1005C>T (p.Asp335=) rs1394131991 0.00002
NM_003079.5(SMARCE1):c.1110G>A (p.Gly370=) rs146475742 0.00002
NM_003079.5(SMARCE1):c.370-16A>C rs773985049 0.00002
NM_003079.5(SMARCE1):c.507G>A (p.Pro169=) rs768018632 0.00002
NM_003079.5(SMARCE1):c.52-15A>G rs534661500 0.00002
NM_003079.5(SMARCE1):c.573A>C (p.Thr191=) rs1060504227 0.00002
NM_003079.5(SMARCE1):c.822C>T (p.Cys274=) rs769584665 0.00002
NM_003079.5(SMARCE1):c.1027+15A>G rs373998018 0.00001
NM_003079.5(SMARCE1):c.1027+16C>A rs779439710 0.00001
NM_003079.5(SMARCE1):c.1027+20C>T rs755475324 0.00001
NM_003079.5(SMARCE1):c.1028-7del rs750699769 0.00001
NM_003079.5(SMARCE1):c.102C>T (p.Leu34=) rs1567848949 0.00001
NM_003079.5(SMARCE1):c.1083G>A (p.Thr361=) rs760555858 0.00001
NM_003079.5(SMARCE1):c.1125C>T (p.Asp375=) rs1178049897 0.00001
NM_003079.5(SMARCE1):c.1152T>C (p.Asp384=) rs747192638 0.00001
NM_003079.5(SMARCE1):c.1185A>G (p.Thr395=) rs2037060598 0.00001
NM_003079.5(SMARCE1):c.156+20C>T rs759489225 0.00001
NM_003079.5(SMARCE1):c.157-5C>T rs776664220 0.00001
NM_003079.5(SMARCE1):c.157-6T>C rs759579237 0.00001
NM_003079.5(SMARCE1):c.174G>A (p.Thr58=) rs201976136 0.00001
NM_003079.5(SMARCE1):c.232A>C (p.Arg78=) rs1201043924 0.00001
NM_003079.5(SMARCE1):c.237+14A>T rs2037158156 0.00001
NM_003079.5(SMARCE1):c.238-12T>C rs529233633 0.00001
NM_003079.5(SMARCE1):c.238-6T>C rs1194551641 0.00001
NM_003079.5(SMARCE1):c.238-7T>C rs1461647458 0.00001
NM_003079.5(SMARCE1):c.264C>T (p.Asn88=) rs761400708 0.00001
NM_003079.5(SMARCE1):c.267T>C (p.Pro89=) rs1460253575 0.00001
NM_003079.5(SMARCE1):c.357C>T (p.Tyr119=) rs770298495 0.00001
NM_003079.5(SMARCE1):c.369+18A>G rs778183973 0.00001
NM_003079.5(SMARCE1):c.370-8A>C rs368298445 0.00001
NM_003079.5(SMARCE1):c.381T>C (p.Asn127=) rs574039127 0.00001
NM_003079.5(SMARCE1):c.405T>C (p.Asn135=) rs888304315 0.00001
NM_003079.5(SMARCE1):c.411C>T (p.Pro137=) rs777241499 0.00001
NM_003079.5(SMARCE1):c.510C>T (p.Tyr170=) rs2037142363 0.00001
NM_003079.5(SMARCE1):c.516C>T (p.Ser172=) rs771523560 0.00001
NM_003079.5(SMARCE1):c.522G>A (p.Gln174=) rs761026520 0.00001
NM_003079.5(SMARCE1):c.549T>C (p.Asp183=) rs752455835 0.00001
NM_003079.5(SMARCE1):c.600C>T (p.His200=) rs990075824 0.00001
NM_003079.5(SMARCE1):c.606C>G (p.Leu202=) rs1243737488 0.00001
NM_003079.5(SMARCE1):c.657C>T (p.Val219=) rs1423245581 0.00001
NM_003079.5(SMARCE1):c.696G>A (p.Gln232=) rs2293417 0.00001
NM_003079.5(SMARCE1):c.715-19G>A rs775623781 0.00001
NM_003079.5(SMARCE1):c.723A>G (p.Leu241=) rs747447517 0.00001
NM_003079.5(SMARCE1):c.789A>G (p.Thr263=) rs572351725 0.00001
NM_003079.5(SMARCE1):c.795A>G (p.Ser265=) rs1193419924 0.00001
NM_003079.5(SMARCE1):c.817-16G>C rs1042908466 0.00001
NM_003079.5(SMARCE1):c.855T>C (p.Ile285=) rs994303454 0.00001
NM_003079.5(SMARCE1):c.942T>C (p.Ser314=) rs1317450309 0.00001
NM_003079.5(SMARCE1):c.990G>A (p.Glu330=) rs754175611 0.00001
NM_003079.5(SMARCE1):c.1027+13C>G
NM_003079.5(SMARCE1):c.1027+16C>G rs779439710
NM_003079.5(SMARCE1):c.1027+19A>G
NM_003079.5(SMARCE1):c.1027+8A>G
NM_003079.5(SMARCE1):c.1028-10G>T rs2037063345
NM_003079.5(SMARCE1):c.1028-12G>A
NM_003079.5(SMARCE1):c.1028-20T>A
NM_003079.5(SMARCE1):c.102C>G (p.Leu34=) rs1567848949
NM_003079.5(SMARCE1):c.1041T>G (p.Leu347=)
NM_003079.5(SMARCE1):c.1050A>C (p.Thr350=) rs2143980877
NM_003079.5(SMARCE1):c.1062A>G (p.Gln354=) rs2143980837
NM_003079.5(SMARCE1):c.1065G>A (p.Gln355=) rs2143980829
NM_003079.5(SMARCE1):c.1068T>C (p.Asn356=) rs1597741295
NM_003079.5(SMARCE1):c.1074A>G (p.Glu358=) rs2143980796
NM_003079.5(SMARCE1):c.1080C>T (p.Gly360=) rs2143980767
NM_003079.5(SMARCE1):c.1092T>G (p.Pro364=) rs2143980702
NM_003079.5(SMARCE1):c.1095G>A (p.Glu365=)
NM_003079.5(SMARCE1):c.111C>T (p.Asn37=) rs2144009134
NM_003079.5(SMARCE1):c.1122C>G (p.Val374=) rs144057094
NM_003079.5(SMARCE1):c.1143A>C (p.Gly381=) rs1555605081
NM_003079.5(SMARCE1):c.1146C>T (p.Thr382=) rs2143980469
NM_003079.5(SMARCE1):c.1158C>T (p.Asn386=) rs1597741219
NM_003079.5(SMARCE1):c.1164C>A (p.Gly388=)
NM_003079.5(SMARCE1):c.1164C>T (p.Gly388=) rs573977743
NM_003079.5(SMARCE1):c.1179T>C (p.Ser393=)
NM_003079.5(SMARCE1):c.1200A>G (p.Pro400=) rs2143980284
NM_003079.5(SMARCE1):c.1227A>G (p.Lys409=) rs1486670960
NM_003079.5(SMARCE1):c.1236A>G (p.Ter412=) rs2143980159
NM_003079.5(SMARCE1):c.123G>T (p.Leu41=) rs2144009122
NM_003079.5(SMARCE1):c.132C>T (p.Asn44=)
NM_003079.5(SMARCE1):c.138C>T (p.Gly46=)
NM_003079.5(SMARCE1):c.147C>T (p.Ser49=)
NM_003079.5(SMARCE1):c.148C>A (p.Arg50=) rs2037209097
NM_003079.5(SMARCE1):c.156+10T>G rs2037208869
NM_003079.5(SMARCE1):c.156+15T>C
NM_003079.5(SMARCE1):c.156+16A>G
NM_003079.5(SMARCE1):c.156+9A>G rs2144009011
NM_003079.5(SMARCE1):c.157-11C>T
NM_003079.5(SMARCE1):c.157-19G>A
NM_003079.5(SMARCE1):c.157-20T>G
NM_003079.5(SMARCE1):c.157-4G>T rs141832779
NM_003079.5(SMARCE1):c.157-6del rs2037158901
NM_003079.5(SMARCE1):c.165T>C (p.Ser55=) rs2143999615
NM_003079.5(SMARCE1):c.204G>A (p.Lys68=) rs1555605896
NM_003079.5(SMARCE1):c.225G>A (p.Arg75=) rs2143999523
NM_003079.5(SMARCE1):c.228C>T (p.Tyr76=) rs2143999516
NM_003079.5(SMARCE1):c.234A>G (p.Arg78=) rs2143999505
NM_003079.5(SMARCE1):c.237+8C>T
NM_003079.5(SMARCE1):c.237+9T>G
NM_003079.5(SMARCE1):c.238-11T>C
NM_003079.5(SMARCE1):c.238-16C>G
NM_003079.5(SMARCE1):c.238-18A>T rs2143997501
NM_003079.5(SMARCE1):c.238-3A>G
NM_003079.5(SMARCE1):c.249A>G (p.Gln83=)
NM_003079.5(SMARCE1):c.271C>T (p.Leu91=)
NM_003079.5(SMARCE1):c.273A>G (p.Leu91=)
NM_003079.5(SMARCE1):c.279G>A (p.Leu93=) rs2037147129
NM_003079.5(SMARCE1):c.285G>A (p.Glu95=)
NM_003079.5(SMARCE1):c.291C>T (p.Gly97=)
NM_003079.5(SMARCE1):c.324T>C (p.Thr108=) rs1597746306
NM_003079.5(SMARCE1):c.333A>G (p.Glu111=)
NM_003079.5(SMARCE1):c.342A>G (p.Glu114=) rs2143997291
NM_003079.5(SMARCE1):c.348A>G (p.Leu116=) rs2143997279
NM_003079.5(SMARCE1):c.366A>G (p.Glu122=) rs2143997250
NM_003079.5(SMARCE1):c.369+10G>A rs199790447
NM_003079.5(SMARCE1):c.369+13C>T
NM_003079.5(SMARCE1):c.369+15C>T rs747316377
NM_003079.5(SMARCE1):c.369+17C>T rs2143997153
NM_003079.5(SMARCE1):c.369+8A>G rs2143997205
NM_003079.5(SMARCE1):c.369+9G>T rs2143997200
NM_003079.5(SMARCE1):c.36C>T (p.Thr12=)
NM_003079.5(SMARCE1):c.370-10T>C rs763801620
NM_003079.5(SMARCE1):c.370-12T>C
NM_003079.5(SMARCE1):c.370-13A>G
NM_003079.5(SMARCE1):c.370-14del rs1272403496
NM_003079.5(SMARCE1):c.370-15A>T
NM_003079.5(SMARCE1):c.370-9G>T rs2143996600
NM_003079.5(SMARCE1):c.384A>G (p.Glu128=) rs2143996550
NM_003079.5(SMARCE1):c.396C>T (p.Ala132=)
NM_003079.5(SMARCE1):c.402T>C (p.His134=) rs1597746120
NM_003079.5(SMARCE1):c.414G>A (p.Ala138=) rs555651762
NM_003079.5(SMARCE1):c.414G>T (p.Ala138=) rs555651762
NM_003079.5(SMARCE1):c.423T>C (p.Ala141=) rs2143996401
NM_003079.5(SMARCE1):c.423T>G (p.Ala141=)
NM_003079.5(SMARCE1):c.435A>C (p.Ala145=)
NM_003079.5(SMARCE1):c.444T>G (p.Arg148=) rs2143996339
NM_003079.5(SMARCE1):c.450A>G (p.Glu150=) rs2143996312
NM_003079.5(SMARCE1):c.465A>G (p.Glu155=) rs2143996244
NM_003079.5(SMARCE1):c.477G>A (p.Gln159=) rs1597746072
NM_003079.5(SMARCE1):c.483A>G (p.Gln161=) rs1282104211
NM_003079.5(SMARCE1):c.486T>G (p.Ser162=) rs1597746062
NM_003079.5(SMARCE1):c.495G>A (p.Glu165=)
NM_003079.5(SMARCE1):c.501A>G (p.Gly167=) rs759123413
NM_003079.5(SMARCE1):c.51+10A>C rs898142232
NM_003079.5(SMARCE1):c.51+19G>A rs1597751980
NM_003079.5(SMARCE1):c.52-20G>T
NM_003079.5(SMARCE1):c.525T>C (p.Pro175=) rs773720929
NM_003079.5(SMARCE1):c.540T>C (p.Asp180=)
NM_003079.5(SMARCE1):c.541+10A>G rs1240216513
NM_003079.5(SMARCE1):c.541+11A>G
NM_003079.5(SMARCE1):c.541+14_541+15insC
NM_003079.5(SMARCE1):c.541+18G>C rs1192376700
NM_003079.5(SMARCE1):c.541+7G>T
NM_003079.5(SMARCE1):c.541+8A>C
NM_003079.5(SMARCE1):c.541+8A>G rs1478738793
NM_003079.5(SMARCE1):c.541+9A>C rs2143995891
NM_003079.5(SMARCE1):c.542-13T>G
NM_003079.5(SMARCE1):c.542-15A>C
NM_003079.5(SMARCE1):c.542-16A>G rs2143988665
NM_003079.5(SMARCE1):c.542-4C>G
NM_003079.5(SMARCE1):c.542-6C>T
NM_003079.5(SMARCE1):c.542-7A>G
NM_003079.5(SMARCE1):c.542-8C>T rs2143988643
NM_003079.5(SMARCE1):c.546T>C (p.Tyr182=) rs1555605440
NM_003079.5(SMARCE1):c.552T>C (p.Asp184=) rs1555605438
NM_003079.5(SMARCE1):c.555C>T (p.Gly185=) rs2143988592
NM_003079.5(SMARCE1):c.561A>G (p.Ser187=)
NM_003079.5(SMARCE1):c.570T>C (p.His190=)
NM_003079.5(SMARCE1):c.582C>G (p.Ala194=) rs765736374
NM_003079.5(SMARCE1):c.582C>T (p.Ala194=) rs765736374
NM_003079.5(SMARCE1):c.585T>C (p.Arg195=)
NM_003079.5(SMARCE1):c.594A>G (p.Arg198=)
NM_003079.5(SMARCE1):c.597C>T (p.Asn199=) rs878854604
NM_003079.5(SMARCE1):c.621T>A (p.Leu207=)
NM_003079.5(SMARCE1):c.624T>C (p.Ser208=) rs1567845801
NM_003079.5(SMARCE1):c.630T>C (p.Ser210=) rs773810706
NM_003079.5(SMARCE1):c.636G>A (p.Val212=) rs2143988373
NM_003079.5(SMARCE1):c.636G>T (p.Val212=) rs2143988373
NM_003079.5(SMARCE1):c.63C>T (p.Ser21=) rs1597749796
NM_003079.5(SMARCE1):c.648G>T (p.Arg216=)
NM_003079.5(SMARCE1):c.657C>G (p.Val219=)
NM_003079.5(SMARCE1):c.66A>G (p.Thr22=) rs1597749794
NM_003079.5(SMARCE1):c.66A>T (p.Thr22=)
NM_003079.5(SMARCE1):c.685C>A (p.Arg229=) rs141619224
NM_003079.5(SMARCE1):c.69A>G (p.Pro23=) rs766668916
NM_003079.5(SMARCE1):c.7+10A>C
NM_003079.5(SMARCE1):c.7+11dup rs2144015604
NM_003079.5(SMARCE1):c.7+12T>A
NM_003079.5(SMARCE1):c.7+16T>C
NM_003079.5(SMARCE1):c.7+17A>G
NM_003079.5(SMARCE1):c.7+19A>G rs2144015593
NM_003079.5(SMARCE1):c.714+14A>G
NM_003079.5(SMARCE1):c.714+15C>T
NM_003079.5(SMARCE1):c.714+16A>G
NM_003079.5(SMARCE1):c.714+17T>C rs1321696308
NM_003079.5(SMARCE1):c.714+19C>A
NM_003079.5(SMARCE1):c.714+9A>G
NM_003079.5(SMARCE1):c.715-11C>T rs746013361
NM_003079.5(SMARCE1):c.715-11dup
NM_003079.5(SMARCE1):c.715-12C>A
NM_003079.5(SMARCE1):c.715-12C>G rs769970957
NM_003079.5(SMARCE1):c.715-12C>T
NM_003079.5(SMARCE1):c.715-20A>G
NM_003079.5(SMARCE1):c.715-4G>A
NM_003079.5(SMARCE1):c.726A>G (p.Glu242=)
NM_003079.5(SMARCE1):c.729T>A (p.Ala243=)
NM_003079.5(SMARCE1):c.750A>G (p.Glu250=) rs1555605350
NM_003079.5(SMARCE1):c.756C>T (p.His252=) rs2143987018
NM_003079.5(SMARCE1):c.765G>A (p.Lys255=) rs749090821
NM_003079.5(SMARCE1):c.769A>C (p.Arg257=) rs1597743097
NM_003079.5(SMARCE1):c.774A>G (p.Lys258=)
NM_003079.5(SMARCE1):c.786C>T (p.Ser262=) rs2143986926
NM_003079.5(SMARCE1):c.804T>C (p.Asn268=)
NM_003079.5(SMARCE1):c.810T>C (p.Leu270=)
NM_003079.5(SMARCE1):c.816+12A>G
NM_003079.5(SMARCE1):c.816+14A>G rs2143986770
NM_003079.5(SMARCE1):c.816+7G>A rs2143986787
NM_003079.5(SMARCE1):c.816+8T>C rs2143986777
NM_003079.5(SMARCE1):c.817-12T>G
NM_003079.5(SMARCE1):c.817-15T>G
NM_003079.5(SMARCE1):c.817-16G>T rs1042908466
NM_003079.5(SMARCE1):c.817-20T>A rs2143985329
NM_003079.5(SMARCE1):c.817-9T>C rs749106268
NM_003079.5(SMARCE1):c.819G>A (p.Leu273=) rs2143985259
NM_003079.5(SMARCE1):c.81A>G (p.Gly27=) rs2144009232
NM_003079.5(SMARCE1):c.831A>G (p.Lys277=) rs780880269
NM_003079.5(SMARCE1):c.834A>G (p.Val278=) rs1555605256
NM_003079.5(SMARCE1):c.843T>C (p.Asp281=) rs1401541142
NM_003079.5(SMARCE1):c.84C>T (p.Tyr28=) rs2144009223
NM_003079.5(SMARCE1):c.861T>C (p.Ala287=) rs2143985114
NM_003079.5(SMARCE1):c.867T>C (p.Ile289=) rs2143985103
NM_003079.5(SMARCE1):c.882A>G (p.Glu294=) rs753014603
NM_003079.5(SMARCE1):c.888C>G (p.Ala296=) rs898665020
NM_003079.5(SMARCE1):c.897G>A (p.Arg299=) rs754006294
NM_003079.5(SMARCE1):c.90A>G (p.Pro30=) rs750602675
NM_003079.5(SMARCE1):c.912G>A (p.Glu304=)
NM_003079.5(SMARCE1):c.918G>A (p.Glu306=) rs2143984915
NM_003079.5(SMARCE1):c.927G>A (p.Glu309=) rs2143984870
NM_003079.5(SMARCE1):c.945G>A (p.Gln315=) rs1060504226
NM_003079.5(SMARCE1):c.96T>C (p.Ser32=) rs2144009165
NM_003079.5(SMARCE1):c.975A>G (p.Ala325=)
NM_003079.5(SMARCE1):c.978T>C (p.Ala326=) rs2143984672

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