ClinVar Miner

List of variants in gene SMARCE1 reported as likely benign for Hereditary cancer-predisposing syndrome

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Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_003079.5(SMARCE1):c.1101G>A (p.Lys367=) rs148666451 0.00066
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=) rs149613910 0.00041
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.894A>G (p.Lys298=) rs759780963 0.00016
NM_003079.5(SMARCE1):c.933T>C (p.Ala311=) rs141470385 0.00016
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00015
NM_003079.5(SMARCE1):c.579C>T (p.Thr193=) rs201484943 0.00012
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg) rs542193901 0.00010
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.938G>A (p.Arg313His) rs201577008 0.00007
NM_003079.5(SMARCE1):c.1017G>A (p.Pro339=) rs372446330 0.00006
NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser) rs151220618 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.1095G>C (p.Glu365Asp) rs773859296 0.00005
NM_003079.5(SMARCE1):c.1167G>A (p.Ser389=) rs755995632 0.00005
NM_003079.5(SMARCE1):c.954C>T (p.Ile318=) rs376628666 0.00005
NM_003079.5(SMARCE1):c.963G>A (p.Glu321=) rs753203502 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.1226A>G (p.Lys409Arg) rs770346178 0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr) rs771308672 0.00004
NM_003079.5(SMARCE1):c.57G>T (p.Met19Ile) rs142279746 0.00004
NM_003079.5(SMARCE1):c.642C>T (p.Asp214=) rs186493032 0.00004
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser) rs745448272 0.00004
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr) rs372988818 0.00004
NM_003079.5(SMARCE1):c.1002C>G (p.Asp334Glu) rs750483952 0.00003
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.369G>A (p.Lys123=) rs746320191 0.00003
NM_003079.5(SMARCE1):c.531A>G (p.Glu177=) rs377424178 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.506C>T (p.Pro169Leu) rs775997908 0.00002
NM_003079.5(SMARCE1):c.507G>A (p.Pro169=) rs768018632 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.860C>G (p.Ala287Gly) rs201158885 0.00002
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys) rs925142025 0.00002
NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys) rs755389218 0.00002
NM_003079.5(SMARCE1):c.1016C>T (p.Pro339Leu) rs1060501398 0.00001
NM_003079.5(SMARCE1):c.102C>T (p.Leu34=) rs1567848949 0.00001
NM_003079.5(SMARCE1):c.1055A>G (p.Glu352Gly) rs1198138077 0.00001
NM_003079.5(SMARCE1):c.1083G>A (p.Thr361=) rs760555858 0.00001
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn) rs746301638 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.1210A>G (p.Ile404Val) rs751165188 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.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.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.488G>A (p.Arg163His) rs762623799 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.517A>G (p.Ile173Val) rs2037142228 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.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.855T>C (p.Ile285=) rs994303454 0.00001
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr) rs1395650269 0.00001
NM_003079.5(SMARCE1):c.937C>T (p.Arg313Cys) rs769672368 0.00001
NM_003079.5(SMARCE1):c.942T>C (p.Ser314=) rs1317450309 0.00001
NM_003079.5(SMARCE1):c.956T>C (p.Val319Ala) rs758831830 0.00001
NM_003079.5(SMARCE1):c.959C>T (p.Pro320Leu) rs2037085756 0.00001
NM_003079.5(SMARCE1):c.102C>G (p.Leu34=) rs1567848949
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro) rs1597741316
NM_003079.5(SMARCE1):c.1038C>G (p.His346Gln) rs1597741306
NM_003079.5(SMARCE1):c.1038C>T (p.His346=)
NM_003079.5(SMARCE1):c.1041T>G (p.Leu347=)
NM_003079.5(SMARCE1):c.1050A>C (p.Thr350=) rs2143980877
NM_003079.5(SMARCE1):c.1053A>C (p.Thr351=)
NM_003079.5(SMARCE1):c.1059C>T (p.Ser353=)
NM_003079.5(SMARCE1):c.105C>T (p.Ala35=)
NM_003079.5(SMARCE1):c.1062A>G (p.Gln354=) rs2143980837
NM_003079.5(SMARCE1):c.1068T>C (p.Asn356=) rs1597741295
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp) rs2143980805
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del) rs765354113
NM_003079.5(SMARCE1):c.1074A>G (p.Glu358=) rs2143980796
NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg) rs976928947
NM_003079.5(SMARCE1):c.1086T>A (p.Ser362=)
NM_003079.5(SMARCE1):c.1098C>T (p.Asp366=)
NM_003079.5(SMARCE1):c.110A>G (p.Asn37Ser) rs1597749763
NM_003079.5(SMARCE1):c.1143A>C (p.Gly381=) rs1555605081
NM_003079.5(SMARCE1):c.1149T>C (p.Ser383=)
NM_003079.5(SMARCE1):c.1158C>T (p.Asn386=) rs1597741219
NM_003079.5(SMARCE1):c.1164C>T (p.Gly388=) rs573977743
NM_003079.5(SMARCE1):c.1170G>T (p.Glu390Asp) rs2037060934
NM_003079.5(SMARCE1):c.1176C>T (p.Asn392=)
NM_003079.5(SMARCE1):c.1188G>A (p.Val396=)
NM_003079.5(SMARCE1):c.1191G>A (p.Glu397=)
NM_003079.5(SMARCE1):c.1215A>G (p.Pro405=)
NM_003079.5(SMARCE1):c.1227A>G (p.Lys409=) rs1486670960
NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys) rs62622817
NM_003079.5(SMARCE1):c.1236A>G (p.Ter412=) rs2143980159
NM_003079.5(SMARCE1):c.132C>T (p.Asn44=)
NM_003079.5(SMARCE1):c.147C>T (p.Ser49=)
NM_003079.5(SMARCE1):c.148C>A (p.Arg50=) rs2037209097
NM_003079.5(SMARCE1):c.150G>A (p.Arg50=)
NM_003079.5(SMARCE1):c.157-3dup
NM_003079.5(SMARCE1):c.174G>T (p.Thr58=)
NM_003079.5(SMARCE1):c.18T>C (p.Ser6=)
NM_003079.5(SMARCE1):c.18T>G (p.Ser6=)
NM_003079.5(SMARCE1):c.195A>G (p.Pro65=)
NM_003079.5(SMARCE1):c.204G>A (p.Lys68=) rs1555605896
NM_003079.5(SMARCE1):c.210G>T (p.Leu70=)
NM_003079.5(SMARCE1):c.228C>T (p.Tyr76=) rs2143999516
NM_003079.5(SMARCE1):c.246C>T (p.Asp82=)
NM_003079.5(SMARCE1):c.249A>G (p.Gln83=)
NM_003079.5(SMARCE1):c.258T>C (p.Ala86=)
NM_003079.5(SMARCE1):c.261C>T (p.Ser87=)
NM_003079.5(SMARCE1):c.271C>T (p.Leu91=)
NM_003079.5(SMARCE1):c.277T>C (p.Leu93=)
NM_003079.5(SMARCE1):c.27A>C (p.Pro9=)
NM_003079.5(SMARCE1):c.285G>A (p.Glu95=)
NM_003079.5(SMARCE1):c.288T>C (p.Ile96=)
NM_003079.5(SMARCE1):c.291C>G (p.Gly97=)
NM_003079.5(SMARCE1):c.306C>T (p.Gly102=)
NM_003079.5(SMARCE1):c.30T>A (p.Pro10=)
NM_003079.5(SMARCE1):c.30T>G (p.Pro10=)
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.369+4G>C rs1597746280
NM_003079.5(SMARCE1):c.36C>A (p.Thr12=)
NM_003079.5(SMARCE1):c.384A>G (p.Glu128=) rs2143996550
NM_003079.5(SMARCE1):c.396C>T (p.Ala132=)
NM_003079.5(SMARCE1):c.39A>C (p.Pro13=)
NM_003079.5(SMARCE1):c.414G>A (p.Ala138=) rs555651762
NM_003079.5(SMARCE1):c.417C>T (p.Tyr139=)
NM_003079.5(SMARCE1):c.427A>G (p.Ile143Val) rs772432672
NM_003079.5(SMARCE1):c.42T>A (p.Ala14=)
NM_003079.5(SMARCE1):c.42T>G (p.Ala14=)
NM_003079.5(SMARCE1):c.432T>C (p.Asn144=) rs1597746097
NM_003079.5(SMARCE1):c.435A>G (p.Ala145=)
NM_003079.5(SMARCE1):c.444T>C (p.Arg148=)
NM_003079.5(SMARCE1):c.45T>A (p.Pro15=)
NM_003079.5(SMARCE1):c.462G>A (p.Glu154=)
NM_003079.5(SMARCE1):c.468A>G (p.Glu156=)
NM_003079.5(SMARCE1):c.472C>A (p.Arg158=)
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.495G>A (p.Glu165=)
NM_003079.5(SMARCE1):c.525T>C (p.Pro175=) rs773720929
NM_003079.5(SMARCE1):c.528T>C (p.Ala176=)
NM_003079.5(SMARCE1):c.534T>C (p.Asp178=)
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.573A>G (p.Thr191=)
NM_003079.5(SMARCE1):c.573A>T (p.Thr191=)
NM_003079.5(SMARCE1):c.576C>T (p.Ala192=)
NM_003079.5(SMARCE1):c.582C>T (p.Ala194=) rs765736374
NM_003079.5(SMARCE1):c.597C>T (p.Asn199=) rs878854604
NM_003079.5(SMARCE1):c.624T>C (p.Ser208=) rs1567845801
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>A (p.Arg216=)
NM_003079.5(SMARCE1):c.648G>T (p.Arg216=)
NM_003079.5(SMARCE1):c.651A>T (p.Ser217=)
NM_003079.5(SMARCE1):c.669A>G (p.Arg223=) rs1597743597
NM_003079.5(SMARCE1):c.66A>G (p.Thr22=) rs1597749794
NM_003079.5(SMARCE1):c.675G>A (p.Gln225=)
NM_003079.5(SMARCE1):c.685C>A (p.Arg229=) rs141619224
NM_003079.5(SMARCE1):c.687G>T (p.Arg229=)
NM_003079.5(SMARCE1):c.693C>G (p.Val231=) rs1597743582
NM_003079.5(SMARCE1):c.69A>G (p.Pro23=) rs766668916
NM_003079.5(SMARCE1):c.726A>G (p.Glu242=)
NM_003079.5(SMARCE1):c.72G>T (p.Gly24=)
NM_003079.5(SMARCE1):c.738T>G (p.Leu246=)
NM_003079.5(SMARCE1):c.741A>G (p.Gln247=) rs1356231337
NM_003079.5(SMARCE1):c.742A>T (p.Ile248Leu) rs2037096994
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.798T>C (p.Phe266=)
NM_003079.5(SMARCE1):c.804T>C (p.Asn268=)
NM_003079.5(SMARCE1):c.821G>A (p.Cys274Tyr) rs1413987767
NM_003079.5(SMARCE1):c.82T>C (p.Tyr28His) rs2144009228
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.84C>T (p.Tyr28=) rs2144009223
NM_003079.5(SMARCE1):c.858A>G (p.Ala286=)
NM_003079.5(SMARCE1):c.867T>C (p.Ile289=) rs2143985103
NM_003079.5(SMARCE1):c.869C>T (p.Ala290Val) rs758923998
NM_003079.5(SMARCE1):c.873G>A (p.Gln291=)
NM_003079.5(SMARCE1):c.888C>G (p.Ala296=) rs898665020
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys) rs562702157
NM_003079.5(SMARCE1):c.891C>T (p.Arg297=)
NM_003079.5(SMARCE1):c.912G>A (p.Glu304=)
NM_003079.5(SMARCE1):c.945G>A (p.Gln315=) rs1060504226
NM_003079.5(SMARCE1):c.954C>A (p.Ile318=)
NM_003079.5(SMARCE1):c.96T>C (p.Ser32=) rs2144009165
NM_003079.5(SMARCE1):c.975A>G (p.Ala325=)
NM_003079.5(SMARCE1):c.99T>C (p.His33=)

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