ClinVar Miner

List of variants in gene NEB studied for Nemaline myopathy 2, autosomal recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001271208.2(NEB):c.1471-1G>A rs1553605995
NM_001271208.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001271208.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001271208.2(NEB):c.3567+1G>A rs587780399
NM_001271208.2(NEB):c.3774+1G>A rs111293259

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.