ClinVar Miner

List of variants in gene SMARCB1 reported as uncertain significance for connective and soft tissue neoplasm

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.*159C>G rs1022324232 0.00055
NM_003073.5(SMARCB1):c.-148T>C rs886057283 0.00010
NM_003073.5(SMARCB1):c.*113C>T rs886057286 0.00008
NM_003073.5(SMARCB1):c.-149C>T rs886057282 0.00002
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met) rs1387467529 0.00002
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) rs145695677 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_003073.5(SMARCB1):c.*279G>A rs886057287 0.00001
NM_003073.5(SMARCB1):c.-83C>T rs1374186002 0.00001
NM_003073.5(SMARCB1):c.500+6G>C rs772329556 0.00001
NM_003073.5(SMARCB1):c.628+4C>T rs373375336 0.00001
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met) rs776693680 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln) rs2030327999 0.00001
NC_000022.10:g.(?_24133937)_(24176373_?)dup
NC_000022.10:g.(?_24143125)_(24176373_?)dup
NM_003073.5(SMARCB1):c.*100C>G rs1363655817
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.*197A>C rs1306414841
NM_003073.5(SMARCB1):c.*307A>G rs2030874248
NM_003073.5(SMARCB1):c.-107A>G rs886057284
NM_003073.5(SMARCB1):c.-157G>A rs886057281
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val) rs1231539032
NM_003073.5(SMARCB1):c.1118+8T>C rs2030796889
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del) rs769579890
NM_003073.5(SMARCB1):c.232+59A>G
NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr)
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=) rs1930218305
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg) rs780906523
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly)
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.795+5G>A rs199902957
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val) rs762676176
NM_003073.5(SMARCB1):c.987-4G>C rs745773662

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.