ClinVar Miner

List of variants studied for Nemaline myopathy 2 by Broad Institute Rare Disease Group,Broad Institute

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP
NM_001271208.2(NEB):c.12018+1G>A	rs762278237
NM_001271208.2(NEB):c.13130_13131del (p.Met4377fs)
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter)
NM_001271208.2(NEB):c.24220-151C>A
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter)	rs754272530
NM_001271208.2(NEB):c.7235A>G (p.Tyr2412Cys)

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.