ClinVar Miner

List of variants in gene SMARCB1 reported as likely benign for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 179
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.750G>A (p.Thr250=) rs1049144154 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.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.672C>T (p.Asp224=) rs748952582 0.00002
NM_003073.5(SMARCB1):c.690G>A (p.Pro230=) rs761800288 0.00002
NM_003073.5(SMARCB1):c.867A>G (p.Ser289=) rs1401472509 0.00002
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.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.1118+5C>T rs1390668754 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.18G>T (p.Leu6=) rs1381647379 0.00001
NM_003073.5(SMARCB1):c.198G>A (p.Ser66=) rs768360679 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.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.549C>T (p.Pro183=) rs141579402 0.00001
NM_003073.5(SMARCB1):c.606C>T (p.Asp202=) rs727504163 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.744C>T (p.Tyr248=) rs994927607 0.00001
NM_003073.5(SMARCB1):c.78C>T (p.Tyr26=) rs374962941 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.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.1029G>T (p.Thr343=) rs761056928
NM_003073.5(SMARCB1):c.1035T>C (p.Asp345=) rs1311972935
NM_003073.5(SMARCB1):c.1059G>A (p.Leu353=) rs1568962989
NM_003073.5(SMARCB1):c.1062G>A (p.Glu354=)
NM_003073.5(SMARCB1):c.1071A>C (p.Thr357=)
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+4C>A rs374197835
NM_003073.5(SMARCB1):c.1118+4C>G rs374197835
NM_003073.5(SMARCB1):c.111T>A (p.Arg37=)
NM_003073.5(SMARCB1):c.1120C>A (p.Arg374=) rs1568963596
NM_003073.5(SMARCB1):c.1137C>T (p.Ala379=)
NM_003073.5(SMARCB1):c.1143G>C (p.Thr381=) rs750187119
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.144C>T (p.Pro48=) rs2145960150
NM_003073.5(SMARCB1):c.147A>G (p.Ser49=)
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>T (p.Leu6=)
NM_003073.5(SMARCB1):c.174A>G (p.Glu58=)
NM_003073.5(SMARCB1):c.180G>A (p.Arg60=) rs2145960388
NM_003073.5(SMARCB1):c.195A>G (p.Ala65=) rs748690005
NM_003073.5(SMARCB1):c.204T>C (p.His68=)
NM_003073.5(SMARCB1):c.219A>G (p.Lys73=)
NM_003073.5(SMARCB1):c.21C>T (p.Ser7=) rs771334931
NM_003073.5(SMARCB1):c.225C>T (p.Asn75=)
NM_003073.5(SMARCB1):c.246G>A (p.Thr82=) rs367881615
NM_003073.5(SMARCB1):c.261T>C (p.Ser87=) rs2145963809
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.315G>A (p.Glu105=) rs2145964188
NM_003073.5(SMARCB1):c.324G>A (p.Lys108=)
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.348C>A (p.Pro116=)
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.420C>T (p.His140=)
NM_003073.5(SMARCB1):c.423C>T (p.His141=) rs2145978409
NM_003073.5(SMARCB1):c.432C>T (p.Ala144=) rs1601401868
NM_003073.5(SMARCB1):c.441C>T (p.Cys147=)
NM_003073.5(SMARCB1):c.462C>T (p.Asn154=)
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.501-4T>C rs1172856081
NM_003073.5(SMARCB1):c.501C>T (p.Cys167=) rs779221331
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.558G>C (p.Leu186=) rs751914353
NM_003073.5(SMARCB1):c.570G>A (p.Arg190=)
NM_003073.5(SMARCB1):c.570G>T (p.Arg190=) rs2145982914
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.642G>T (p.Thr214=) rs745315386
NM_003073.5(SMARCB1):c.645T>G (p.Pro215=) rs917531532
NM_003073.5(SMARCB1):c.684G>A (p.Leu228=) rs2146009711
NM_003073.5(SMARCB1):c.696G>T (p.Thr232=) rs145934279
NM_003073.5(SMARCB1):c.69C>A (p.Gly23=)
NM_003073.5(SMARCB1):c.702G>A (p.Val234=)
NM_003073.5(SMARCB1):c.705A>G (p.Pro235=)
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.72G>A (p.Glu24=)
NM_003073.5(SMARCB1):c.735C>T (p.Ile245=) rs570024912
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.756C>T (p.Ser252=)
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.783C>A (p.Arg261=) rs748964274
NM_003073.5(SMARCB1):c.796-4_796-3del rs772576999
NM_003073.5(SMARCB1):c.801C>T (p.Asn267=)
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.84C>A (p.Ile28=)
NM_003073.5(SMARCB1):c.852A>C (p.Ser284=) rs138735048
NM_003073.5(SMARCB1):c.867A>C (p.Ser289=)
NM_003073.5(SMARCB1):c.87C>T (p.Gly29=) rs1601382677
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.930C>G (p.Thr310=)
NM_003073.5(SMARCB1):c.933C>T (p.Ile311=) rs150722737
NM_003073.5(SMARCB1):c.936A>G (p.Ala312=) rs1053215058
NM_003073.5(SMARCB1):c.939C>T (p.Tyr313=)
NM_003073.5(SMARCB1):c.957G>A (p.Leu319=)
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.987-4G>C rs745773662
NM_003073.5(SMARCB1):c.997C>T (p.Leu333=) rs542096454

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.