ClinVar Miner

List of variants reported as pathogenic for Nemaline myopathy 2 by Institute of Human Genetics,Klinikum rechts der Isar

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
NM_001271208.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001271208.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.9619-2A>G rs375145370

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.