ClinVar Miner

List of variants in gene SMARCB1 studied for Hereditary cancer-predisposing syndrome

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Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210 0.00182
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_003073.5(SMARCB1):c.987C>T (p.Ser329=) rs137942040 0.00041
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.282G>A (p.Ser94=) rs149773283 0.00022
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=) rs117084604 0.00010
NM_003073.5(SMARCB1):c.796-13G>T rs756643970 0.00008
NM_003073.5(SMARCB1):c.987-13C>T rs185572642 0.00008
NM_003073.5(SMARCB1):c.1119-3C>T rs751265598 0.00006
NM_003073.5(SMARCB1):c.537C>T (p.Asn179=) rs533184210 0.00006
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) rs757546528 0.00006
NM_003073.5(SMARCB1):c.987-4G>A rs745773662 0.00006
NM_003073.5(SMARCB1):c.987-5C>T rs781136700 0.00006
NM_003073.5(SMARCB1):c.642G>A (p.Thr214=) rs745315386 0.00005
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_003073.5(SMARCB1):c.348C>T (p.Pro116=) rs888616162 0.00004
NM_003073.5(SMARCB1):c.783C>T (p.Arg261=) rs748964274 0.00004
NM_003073.5(SMARCB1):c.855G>A (p.Glu285=) rs754587817 0.00004
NM_003073.5(SMARCB1):c.889C>T (p.Leu297=) rs370768337 0.00004
NM_003073.5(SMARCB1):c.912C>T (p.Gly304=) rs374509291 0.00004
NM_003073.5(SMARCB1):c.132C>T (p.Tyr44=) rs370334151 0.00003
NM_003073.5(SMARCB1):c.369G>A (p.Gln123=) rs760015392 0.00003
NM_003073.5(SMARCB1):c.628+5A>G rs1298640170 0.00003
NM_003073.5(SMARCB1):c.712G>A (p.Ala238Thr) rs765514964 0.00003
NM_003073.5(SMARCB1):c.750G>A (p.Thr250=) rs1049144154 0.00003
NM_003073.5(SMARCB1):c.755G>A (p.Ser252Asn) rs372924301 0.00003
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=) rs187488637 0.00003
NM_003073.5(SMARCB1):c.1098C>T (p.Arg366=) rs562018506 0.00002
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met) rs1387467529 0.00002
NM_003073.5(SMARCB1):c.237C>T (p.His79=) rs200394488 0.00002
NM_003073.5(SMARCB1):c.27C>T (p.Thr9=) rs776259216 0.00002
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) rs145695677 0.00002
NM_003073.5(SMARCB1):c.374C>G (p.Ala125Gly) rs1029942798 0.00002
NM_003073.5(SMARCB1):c.528C>A (p.Ile176=) rs1031967752 0.00002
NM_003073.5(SMARCB1):c.582G>A (p.Glu194=) rs759241720 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.64G>A (p.Asp22Asn) rs1417899723 0.00002
NM_003073.5(SMARCB1):c.672C>T (p.Asp224=) rs748952582 0.00002
NM_003073.5(SMARCB1):c.690G>A (p.Pro230=) rs761800288 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_003073.5(SMARCB1):c.796-4T>G rs1030998446 0.00002
NM_003073.5(SMARCB1):c.867A>G (p.Ser289=) rs1401472509 0.00002
NM_003073.5(SMARCB1):c.-3G>T rs1002770944 0.00001
NM_003073.5(SMARCB1):c.1017C>T (p.Ala339=) rs1397141146 0.00001
NM_003073.5(SMARCB1):c.1022G>A (p.Arg341Gln) rs748441485 0.00001
NM_003073.5(SMARCB1):c.1028C>T (p.Thr343Met) rs773457718 0.00001
NM_003073.5(SMARCB1):c.1029G>A (p.Thr343=) rs761056928 0.00001
NM_003073.5(SMARCB1):c.1038G>A (p.Ala346=) rs777241431 0.00001
NM_003073.5(SMARCB1):c.1074C>T (p.Asp358=) rs1205121674 0.00001
NM_003073.5(SMARCB1):c.1115C>T (p.Thr372Met) rs992198711 0.00001
NM_003073.5(SMARCB1):c.1118+5C>T rs1390668754 0.00001
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
NM_003073.5(SMARCB1):c.1143G>A (p.Thr381=) rs750187119 0.00001
NM_003073.5(SMARCB1):c.117C>T (p.Phe39=) rs757517233 0.00001
NM_003073.5(SMARCB1):c.11T>C (p.Met4Thr) rs371477865 0.00001
NM_003073.5(SMARCB1):c.166A>T (p.Thr56Ser) rs1568936098 0.00001
NM_003073.5(SMARCB1):c.18G>T (p.Leu6=) rs1381647379 0.00001
NM_003073.5(SMARCB1):c.198G>A (p.Ser66=) rs768360679 0.00001
NM_003073.5(SMARCB1):c.281C>T (p.Ser94Leu) rs1223772419 0.00001
NM_003073.5(SMARCB1):c.300G>A (p.Leu100=) rs768661574 0.00001
NM_003073.5(SMARCB1):c.30C>T (p.Phe10=) rs1247300129 0.00001
NM_003073.5(SMARCB1):c.358C>T (p.Leu120Phe) rs754350320 0.00001
NM_003073.5(SMARCB1):c.366A>T (p.Glu122Asp) rs1060503018 0.00001
NM_003073.5(SMARCB1):c.42C>T (p.Pro14=) rs1285048687 0.00001
NM_003073.5(SMARCB1):c.447A>G (p.Thr149=) rs780907377 0.00001
NM_003073.5(SMARCB1):c.492C>T (p.Phe164=) rs780005225 0.00001
NM_003073.5(SMARCB1):c.510C>T (p.Asp170=) rs762656012 0.00001
NM_003073.5(SMARCB1):c.520G>T (p.Ala174Ser) rs746433763 0.00001
NM_003073.5(SMARCB1):c.549C>T (p.Pro183=) rs141579402 0.00001
NM_003073.5(SMARCB1):c.550G>A (p.Glu184Lys) rs776374083 0.00001
NM_003073.5(SMARCB1):c.606C>T (p.Asp202=) rs727504163 0.00001
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser) rs763872301 0.00001
NM_003073.5(SMARCB1):c.628+4C>T rs373375336 0.00001
NM_003073.5(SMARCB1):c.69C>G (p.Gly23=) rs769604673 0.00001
NM_003073.5(SMARCB1):c.711C>T (p.Ile237=) rs1178245388 0.00001
NM_003073.5(SMARCB1):c.743A>G (p.Tyr248Cys) rs1444281296 0.00001
NM_003073.5(SMARCB1):c.744C>T (p.Tyr248=) rs994927607 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.78C>T (p.Tyr26=) rs374962941 0.00001
NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val) rs887245809 0.00001
NM_003073.5(SMARCB1):c.822C>G (p.Ser274=) rs1386414055 0.00001
NM_003073.5(SMARCB1):c.840G>A (p.Glu280=) rs753334172 0.00001
NM_003073.5(SMARCB1):c.852A>G (p.Ser284=) rs138735048 0.00001
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) rs769322487 0.00001
NM_003073.5(SMARCB1):c.924C>T (p.Val308=) rs770886017 0.00001
NM_003073.5(SMARCB1):c.946C>T (p.Arg316Trp) rs769023941 0.00001
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln) rs2030327999 0.00001
NM_003073.5(SMARCB1):c.986+3A>G rs1601433601 0.00001
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.-1A>C
NM_003073.5(SMARCB1):c.-4C>T
NM_003073.5(SMARCB1):c.1002C>T (p.Pro334=) rs908371998
NM_003073.5(SMARCB1):c.1005A>C (p.Thr335=)
NM_003073.5(SMARCB1):c.1005A>G (p.Thr335=)
NM_003073.5(SMARCB1):c.1007T>C (p.Val336Ala)
NM_003073.5(SMARCB1):c.1013T>C (p.Ile338Thr) rs2146041839
NM_003073.5(SMARCB1):c.101A>G (p.Asn34Ser) rs2145959891
NM_003073.5(SMARCB1):c.1021C>T (p.Arg341Trp)
NM_003073.5(SMARCB1):c.1022G>T (p.Arg341Leu)
NM_003073.5(SMARCB1):c.1029G>T (p.Thr343=) rs761056928
NM_003073.5(SMARCB1):c.1035T>C (p.Asp345=) rs1311972935
NM_003073.5(SMARCB1):c.1052C>T (p.Pro351Leu) rs2030790017
NM_003073.5(SMARCB1):c.1059G>A (p.Leu353=) rs1568962989
NM_003073.5(SMARCB1):c.1061A>G (p.Glu354Gly)
NM_003073.5(SMARCB1):c.1062G>A (p.Glu354=)
NM_003073.5(SMARCB1):c.1069A>G (p.Thr357Ala)
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003073.5(SMARCB1):c.1071A>C (p.Thr357=)
NM_003073.5(SMARCB1):c.1075G>A (p.Ala359Thr)
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.108C>G (p.Leu36=)
NM_003073.5(SMARCB1):c.1107C>T (p.Asp369=) rs770611444
NM_003073.5(SMARCB1):c.1110G>A (p.Arg370=)
NM_003073.5(SMARCB1):c.1118+3A>G
NM_003073.5(SMARCB1):c.1118+4C>A rs374197835
NM_003073.5(SMARCB1):c.1118+4C>G rs374197835
NM_003073.5(SMARCB1):c.1118+4C>T
NM_003073.5(SMARCB1):c.111T>A (p.Arg37=)
NM_003073.5(SMARCB1):c.1120C>A (p.Arg374=) rs1568963596
NM_003073.5(SMARCB1):c.1129_1134del (p.Arg377_Leu378del)
NM_003073.5(SMARCB1):c.1137C>T (p.Ala379=)
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003073.5(SMARCB1):c.1143G>C (p.Thr381=) rs750187119
NM_003073.5(SMARCB1):c.1145C>T (p.Ala382Val) rs756129754
NM_003073.5(SMARCB1):c.1149G>A (p.Pro383=) rs780103418
NM_003073.5(SMARCB1):c.1157A>G (p.Ter386=) rs1601446932
NM_003073.5(SMARCB1):c.129G>A (p.Leu43=)
NM_003073.5(SMARCB1):c.142C>T (p.Pro48Ser)
NM_003073.5(SMARCB1):c.144C>T (p.Pro48=) rs2145960150
NM_003073.5(SMARCB1):c.147A>G (p.Ser49=)
NM_003073.5(SMARCB1):c.157C>T (p.Arg53Ter) rs1928400256
NM_003073.5(SMARCB1):c.158G>A (p.Arg53Gln)
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003073.5(SMARCB1):c.159A>G (p.Arg53=)
NM_003073.5(SMARCB1):c.162A>G (p.Leu54=) rs1601388633
NM_003073.5(SMARCB1):c.168T>G (p.Thr56=)
NM_003073.5(SMARCB1):c.169G>A (p.Val57Met) rs922052006
NM_003073.5(SMARCB1):c.16C>G (p.Leu6Val)
NM_003073.5(SMARCB1):c.16C>T (p.Leu6=)
NM_003073.5(SMARCB1):c.174A>G (p.Glu58=)
NM_003073.5(SMARCB1):c.178_179del (p.Arg60fs) rs1555875915
NM_003073.5(SMARCB1):c.180G>A (p.Arg60=) rs2145960388
NM_003073.5(SMARCB1):c.185A>C (p.Lys62Thr) rs1928402357
NM_003073.5(SMARCB1):c.195A>G (p.Ala65=) rs748690005
NM_003073.5(SMARCB1):c.204T>C (p.His68=)
NM_003073.5(SMARCB1):c.20G>T (p.Ser7Ile)
NM_003073.5(SMARCB1):c.219A>G (p.Lys73=)
NM_003073.5(SMARCB1):c.21C>T (p.Ser7=) rs771334931
NM_003073.5(SMARCB1):c.220C>T (p.Pro74Ser)
NM_003073.5(SMARCB1):c.221C>T (p.Pro74Leu)
NM_003073.5(SMARCB1):c.225C>T (p.Asn75=)
NM_003073.5(SMARCB1):c.232+5G>A rs1555875932
NM_003073.5(SMARCB1):c.233-9_233-6del rs1928536961
NM_003073.5(SMARCB1):c.238G>A (p.Gly80Arg)
NM_003073.5(SMARCB1):c.23A>G (p.Lys8Arg)
NM_003073.5(SMARCB1):c.242A>G (p.Tyr81Cys) rs2145963676
NM_003073.5(SMARCB1):c.245C>T (p.Thr82Met) rs1928538526
NM_003073.5(SMARCB1):c.246G>A (p.Thr82=) rs367881615
NM_003073.5(SMARCB1):c.260G>A (p.Ser87Asn)
NM_003073.5(SMARCB1):c.261T>C (p.Ser87=) rs2145963809
NM_003073.5(SMARCB1):c.277G>T (p.Ala93Ser)
NM_003073.5(SMARCB1):c.282G>C (p.Ser94=) rs149773283
NM_003073.5(SMARCB1):c.288G>A (p.Val96=)
NM_003073.5(SMARCB1):c.291A>G (p.Glu97=)
NM_003073.5(SMARCB1):c.297T>C (p.Ile99=)
NM_003073.5(SMARCB1):c.301G>A (p.Asp101Asn) rs774488493
NM_003073.5(SMARCB1):c.310G>A (p.Asp104Asn)
NM_003073.5(SMARCB1):c.315G>A (p.Glu105=) rs2145964188
NM_003073.5(SMARCB1):c.324G>A (p.Lys108=)
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala) rs1601391157
NM_003073.5(SMARCB1):c.332C>G (p.Ser111Cys)
NM_003073.5(SMARCB1):c.333C>G (p.Ser111=) rs1601391182
NM_003073.5(SMARCB1):c.333C>T (p.Ser111=) rs1601391182
NM_003073.5(SMARCB1):c.336C>T (p.Ile112=) rs2145964352
NM_003073.5(SMARCB1):c.345G>A (p.Glu115=)
NM_003073.5(SMARCB1):c.347C>A (p.Pro116His)
NM_003073.5(SMARCB1):c.348C>A (p.Pro116=)
NM_003073.5(SMARCB1):c.349C>T (p.Pro117Ser)
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) rs74315513
NM_003073.5(SMARCB1):c.352A>C (p.Thr118Pro) rs761082514
NM_003073.5(SMARCB1):c.35A>C (p.Gln12Pro)
NM_003073.5(SMARCB1):c.35A>G (p.Gln12Arg)
NM_003073.5(SMARCB1):c.372G>A (p.Lys124=) rs1929107625
NM_003073.5(SMARCB1):c.375C>T (p.Ala125=)
NM_003073.5(SMARCB1):c.399C>T (p.Pro133=) rs1555877017
NM_003073.5(SMARCB1):c.408C>T (p.Pro136=) rs1601401844
NM_003073.5(SMARCB1):c.413G>C (p.Ser138Thr) rs1929110548
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)
NM_003073.5(SMARCB1):c.420C>T (p.His140=)
NM_003073.5(SMARCB1):c.423C>T (p.His141=) rs2145978409
NM_003073.5(SMARCB1):c.430G>A (p.Ala144Thr)
NM_003073.5(SMARCB1):c.432C>T (p.Ala144=) rs1601401868
NM_003073.5(SMARCB1):c.433G>A (p.Val145Met) rs1601401880
NM_003073.5(SMARCB1):c.43G>T (p.Val15Leu)
NM_003073.5(SMARCB1):c.441C>T (p.Cys147=)
NM_003073.5(SMARCB1):c.460A>T (p.Asn154Tyr) rs1555877022
NM_003073.5(SMARCB1):c.461A>G (p.Asn154Ser) rs1057523475
NM_003073.5(SMARCB1):c.462C>T (p.Asn154=)
NM_003073.5(SMARCB1):c.464G>A (p.Arg155His)
NM_003073.5(SMARCB1):c.466A>G (p.Met156Val) rs540120954
NM_003073.5(SMARCB1):c.468G>A (p.Met156Ile)
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter) rs2145978723
NM_003073.5(SMARCB1):c.473G>A (p.Arg158Gln)
NM_003073.5(SMARCB1):c.495C>G (p.Pro165=) rs972863493
NM_003073.5(SMARCB1):c.498T>C (p.Leu166=) rs748263509
NM_003073.5(SMARCB1):c.500+3G>A rs1601402006
NM_003073.5(SMARCB1):c.501-4T>C rs1172856081
NM_003073.5(SMARCB1):c.501C>G (p.Cys167Trp) rs779221331
NM_003073.5(SMARCB1):c.501C>T (p.Cys167=) rs779221331
NM_003073.5(SMARCB1):c.505G>C (p.Asp169His)
NM_003073.5(SMARCB1):c.512A>G (p.His171Arg) rs794727718
NM_003073.5(SMARCB1):c.517C>G (p.Pro173Ala) rs772788649
NM_003073.5(SMARCB1):c.519A>G (p.Pro173=)
NM_003073.5(SMARCB1):c.519A>T (p.Pro173=)
NM_003073.5(SMARCB1):c.51C>T (p.Phe17=)
NM_003073.5(SMARCB1):c.525G>A (p.Val175=)
NM_003073.5(SMARCB1):c.534G>A (p.Glu178=)
NM_003073.5(SMARCB1):c.54G>A (p.Gln18=)
NM_003073.5(SMARCB1):c.557T>C (p.Leu186Pro) rs1601405018
NM_003073.5(SMARCB1):c.558G>C (p.Leu186=) rs751914353
NM_003073.5(SMARCB1):c.559G>T (p.Val187Phe) rs1568943235
NM_003073.5(SMARCB1):c.567C>G (p.Ile189Met)
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003073.5(SMARCB1):c.570G>A (p.Arg190=)
NM_003073.5(SMARCB1):c.570G>T (p.Arg190=) rs2145982914
NM_003073.5(SMARCB1):c.583A>T (p.Ile195Phe) rs1929290525
NM_003073.5(SMARCB1):c.585C>A (p.Ile195=)
NM_003073.5(SMARCB1):c.591G>A (p.Gly197=)
NM_003073.5(SMARCB1):c.597G>A (p.Lys199=)
NM_003073.5(SMARCB1):c.609C>T (p.Ala203=) rs1601405156
NM_003073.5(SMARCB1):c.612C>T (p.Phe204=)
NM_003073.5(SMARCB1):c.615C>G (p.Thr205=)
NM_003073.5(SMARCB1):c.615C>T (p.Thr205=)
NM_003073.5(SMARCB1):c.61G>A (p.Asp21Asn) rs1601382598
NM_003073.5(SMARCB1):c.628+5A>C rs1298640170
NM_003073.5(SMARCB1):c.630G>T (p.Glu210Asp)
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg) rs780906523
NM_003073.5(SMARCB1):c.641C>T (p.Thr214Met) rs780906523
NM_003073.5(SMARCB1):c.642G>T (p.Thr214=) rs745315386
NM_003073.5(SMARCB1):c.645T>G (p.Pro215=) rs917531532
NM_003073.5(SMARCB1):c.662T>C (p.Ile221Thr)
NM_003073.5(SMARCB1):c.668G>A (p.Cys223Tyr) rs1470474620
NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr) rs768379745
NM_003073.5(SMARCB1):c.67G>A (p.Gly23Ser) rs1287987691
NM_003073.5(SMARCB1):c.684G>A (p.Leu228=) rs2146009711
NM_003073.5(SMARCB1):c.689C>T (p.Pro230Leu) rs2146009762
NM_003073.5(SMARCB1):c.68G>A (p.Gly23Asp) rs1601382621
NM_003073.5(SMARCB1):c.696G>T (p.Thr232=) rs145934279
NM_003073.5(SMARCB1):c.69C>A (p.Gly23=)
NM_003073.5(SMARCB1):c.700G>C (p.Val234Leu) rs1272912695
NM_003073.5(SMARCB1):c.702G>A (p.Val234=)
NM_003073.5(SMARCB1):c.705A>G (p.Pro235=)
NM_003073.5(SMARCB1):c.70G>A (p.Glu24Lys) rs1601382640
NM_003073.5(SMARCB1):c.71A>C (p.Glu24Ala) rs2145952118
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.72G>A (p.Glu24=)
NM_003073.5(SMARCB1):c.733A>G (p.Ile245Val)
NM_003073.5(SMARCB1):c.734T>C (p.Ile245Thr) rs1555879350
NM_003073.5(SMARCB1):c.735C>T (p.Ile245=) rs570024912
NM_003073.5(SMARCB1):c.73T>G (p.Phe25Val)
NM_003073.5(SMARCB1):c.741C>G (p.Ser247=) rs534183354
NM_003073.5(SMARCB1):c.747C>T (p.Pro249=) rs1555879356
NM_003073.5(SMARCB1):c.748A>G (p.Thr250Ala)
NM_003073.5(SMARCB1):c.74T>C (p.Phe25Ser) rs2145952130
NM_003073.5(SMARCB1):c.754A>G (p.Ser252Gly)
NM_003073.5(SMARCB1):c.756C>T (p.Ser252=)
NM_003073.5(SMARCB1):c.759_761del (p.Ile253_Leu254delinsMet) rs1930227319
NM_003073.5(SMARCB1):c.762G>C (p.Leu254=)
NM_003073.5(SMARCB1):c.765G>A (p.Glu255=) rs1060504799
NM_003073.5(SMARCB1):c.774A>G (p.Ser258=)
NM_003073.5(SMARCB1):c.781C>A (p.Arg261Ser)
NM_003073.5(SMARCB1):c.782G>A (p.Arg261His) rs779587990
NM_003073.5(SMARCB1):c.783C>A (p.Arg261=) rs748964274
NM_003073.5(SMARCB1):c.787A>G (p.Ile263Val)
NM_003073.5(SMARCB1):c.795+3A>G rs768344215
NM_003073.5(SMARCB1):c.795+5G>A rs199902957
NM_003073.5(SMARCB1):c.796-4_796-3del rs772576999
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu) rs762676176
NM_003073.5(SMARCB1):c.801C>T (p.Asn267=)
NM_003073.5(SMARCB1):c.804C>A (p.Ile268=) rs1448111718
NM_003073.5(SMARCB1):c.815A>G (p.Asn272Ser)
NM_003073.5(SMARCB1):c.822C>T (p.Ser274=)
NM_003073.5(SMARCB1):c.825G>A (p.Leu275=) rs2146026700
NM_003073.5(SMARCB1):c.831C>T (p.Asp277=) rs1601433351
NM_003073.5(SMARCB1):c.846C>T (p.Asp282=) rs2030320710
NM_003073.5(SMARCB1):c.849G>A (p.Met283Ile) rs1601433375
NM_003073.5(SMARCB1):c.849_866dup (p.Ser289_Pro290insSerGluLysGluAsnSer)
NM_003073.5(SMARCB1):c.84C>A (p.Ile28=)
NM_003073.5(SMARCB1):c.852A>C (p.Ser284=) rs138735048
NM_003073.5(SMARCB1):c.853G>A (p.Glu285Lys)
NM_003073.5(SMARCB1):c.856_858del (p.Lys286del) rs1060503020
NM_003073.5(SMARCB1):c.867A>C (p.Ser289=)
NM_003073.5(SMARCB1):c.868C>G (p.Pro290Ala) rs2030322683
NM_003073.5(SMARCB1):c.87C>T (p.Gly29=) rs1601382677
NM_003073.5(SMARCB1):c.880G>A (p.Ala294Thr) rs1555880578
NM_003073.5(SMARCB1):c.881C>T (p.Ala294Val) rs1555880581
NM_003073.5(SMARCB1):c.892T>C (p.Cys298Arg)
NM_003073.5(SMARCB1):c.897G>T (p.Ser299=) rs2229354
NM_003073.5(SMARCB1):c.906G>A (p.Gly302=)
NM_003073.5(SMARCB1):c.90C>G (p.Ser30=) rs761868468
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=) rs761868468
NM_003073.5(SMARCB1):c.912C>G (p.Gly304=) rs374509291
NM_003073.5(SMARCB1):c.921T>C (p.Phe307=)
NM_003073.5(SMARCB1):c.93+4G>A
NM_003073.5(SMARCB1):c.930C>G (p.Thr310=)
NM_003073.5(SMARCB1):c.933C>T (p.Ile311=) rs150722737
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del) rs1601433521
NM_003073.5(SMARCB1):c.936A>G (p.Ala312=) rs1053215058
NM_003073.5(SMARCB1):c.939C>T (p.Tyr313=)
NM_003073.5(SMARCB1):c.941G>A (p.Ser314Asn)
NM_003073.5(SMARCB1):c.957G>A (p.Leu319=)
NM_003073.5(SMARCB1):c.964C>T (p.His322Tyr)
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys) rs1265308124
NM_003073.5(SMARCB1):c.972G>A (p.Lys324=) rs1601433555
NM_003073.5(SMARCB1):c.975C>G (p.Thr325=) rs774763517
NM_003073.5(SMARCB1):c.977A>C (p.Tyr326Ser)
NM_003073.5(SMARCB1):c.979G>A (p.Ala327Thr) rs1601433577
NM_003073.5(SMARCB1):c.986+2T>G
NM_003073.5(SMARCB1):c.986+5G>A
NM_003073.5(SMARCB1):c.987-4G>C rs745773662
NM_003073.5(SMARCB1):c.987-4G>T rs745773662
NM_003073.5(SMARCB1):c.988G>A (p.Glu330Lys)
NM_003073.5(SMARCB1):c.997C>T (p.Leu333=) rs542096454

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