ClinVar Miner

List of variants in gene SMARCB1 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
NC_000022.10:g.(?_24129357)_(24135885_?)del
NC_000022.10:g.(?_24129357)_(24145629_?)del
NC_000022.10:g.(?_24135736)_(24135885_?)del
NC_000022.10:g.(?_24143121)_(24145619_?)del
NC_000022.10:g.(?_24143121)_(24145619_?)dup
NC_000022.10:g.(?_24158947)_(24176449_?)del
NC_000022.10:g.(?_24175749)_(24176449_?)del
NC_000022.11:g.(?_23787160)_(23787272_?)del
NC_000022.11:g.(?_23787160)_(23834190_?)del
NC_000022.11:g.(?_23787170)_(23834262_?)del
NC_000022.11:g.(?_23793553)_(23793694_?)del
NC_000022.11:g.(?_23816760)_(23816946_?)dup
NC_000022.11:g.(?_23825215)_(23825425_?)del
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.1007_1010del (p.Val336fs)
NM_003073.5(SMARCB1):c.1042C>T (p.Gln348Ter)
NM_003073.5(SMARCB1):c.104_115del (p.Tyr35_Met38del) rs1928395725
NM_003073.5(SMARCB1):c.1052dup (p.Leu352fs) rs2030789446
NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs) rs1555881563
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003073.5(SMARCB1):c.109C>T (p.Arg37Cys)
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1118+1G>A rs1555881586
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.1148del (p.Pro383fs) rs2146045204
NM_003073.5(SMARCB1):c.118C>T (p.Arg40Ter) rs1060503015
NM_003073.5(SMARCB1):c.137_140dup (p.Tyr47Ter) rs1555875892
NM_003073.5(SMARCB1):c.141C>A (p.Tyr47Ter) rs1601388576
NM_003073.5(SMARCB1):c.147dup (p.Leu50fs)
NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter) rs1060503016
NM_003073.5(SMARCB1):c.153G>A (p.Trp51Ter) rs2145960213
NM_003073.5(SMARCB1):c.157C>T (p.Arg53Ter) rs1928400256
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003073.5(SMARCB1):c.159_160delinsTATCTGGAGGCG (p.Leu54fs) rs1928400754
NM_003073.5(SMARCB1):c.214del (p.Thr72fs)
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
NM_003073.5(SMARCB1):c.268del (p.Leu90fs) rs1928539937
NM_003073.5(SMARCB1):c.31G>A (p.Gly11Arg) rs1555875308
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) rs74315513
NM_003073.5(SMARCB1):c.351dup (p.Thr118fs) rs1555876140
NM_003073.5(SMARCB1):c.362+1G>A rs1568937197
NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter) rs1929106223
NM_003073.5(SMARCB1):c.36del (p.Lys13fs)
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)
NM_003073.5(SMARCB1):c.463del (p.Arg155fs)
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter) rs2145978723
NM_003073.5(SMARCB1):c.489del (p.Phe164fs)
NM_003073.5(SMARCB1):c.496del (p.Leu166fs) rs1929117983
NM_003073.5(SMARCB1):c.501-1G>C rs1555877276
NM_003073.5(SMARCB1):c.52C>T (p.Gln18Ter) rs1928044707
NM_003073.5(SMARCB1):c.536_542del (p.Asn179fs)
NM_003073.5(SMARCB1):c.601C>T (p.Arg201Ter) rs1555877286
NM_003073.5(SMARCB1):c.644del (p.Pro215fs) rs1930219613
NM_003073.5(SMARCB1):c.778C>T (p.Gln260Ter) rs2146010499
NM_003073.5(SMARCB1):c.826del (p.Val276fs)
NM_003073.5(SMARCB1):c.832C>T (p.Gln278Ter)
NM_003073.5(SMARCB1):c.91G>T (p.Glu31Ter) rs2145952184
NM_003073.5(SMARCB1):c.92A>G (p.Glu31Gly)
NM_003073.5(SMARCB1):c.92_93del (p.Glu31fs) rs2145952190
NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs) rs1060503017

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.