ClinVar Miner

List of variants reported as pathogenic for benign peripheral nerve sheath tumor by OMIM

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_130439.3(MXI1):c.362C>T (p.Ala121Val) rs137852604 0.00001
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
NM_000268.4(NF2):c.125_126insG (p.Gly43fs) rs587776564
NM_000268.4(NF2):c.205_211del (p.Lys69fs) rs587776565
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu) rs387906811
NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs) rs587776679
NM_003073.5(SMARCB1):c.233-2_237del
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) rs74315513
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) rs587777179
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613

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.