List of variants reported as likely benign for nemaline myopathy 2 by Counsyl

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)	rs35740585	0.01429
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)	rs36105240	0.00148
NM_001164508.2(NEB):c.23241+16C>T	rs75221580	0.00061
NM_001164508.2(NEB):c.3879+8G>A	rs376511134	0.00016
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=)	rs371431256	0.00005
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)	rs763193315	0.00001
NM_001164508.2(NEB):c.19102-31_19102-30del	rs774225336
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=)	rs267598918
NM_001164508.2(NEB):c.22273-36CT[5]	rs751597547
NM_001164508.2(NEB):c.23128-18del	rs1553616477
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=)	rs267598923
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=)	rs6709886
NM_001271208.1(NEB):c.23940+17_23940+21del	rs768100915

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.