List of variants reported as benign for Nemaline myopathy 7

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138638.5(CFL2):c.*1682A>T	rs712301	0.46053
NM_138638.5(CFL2):c.*285A>G	rs9789	0.27894
NM_138638.5(CFL2):c.*2038G>T	rs9491	0.24886
NM_138638.5(CFL2):c.*925T>C	rs11539496	0.24877
NM_138638.5(CFL2):c.*1905A>G	rs41528946	0.03033
NM_138638.5(CFL2):c.*409T>G	rs116651711	0.01734
NM_138638.5(CFL2):c.*35C>T	rs115050412	0.01172
NM_138638.5(CFL2):c.21G>A (p.Val7=)	rs149700171	0.00104
NM_138638.5(CFL2):c.15T>C (p.Val5=)	rs542840152	0.00001
NM_138638.5(CFL2):c.312-18dup	rs35515423
NM_138638.5(CFL2):c.312-7del	rs35515423
NM_138638.5(CFL2):c.312-8_312-7del	rs35515423

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.