List of variants reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2N by Illumina Laboratory Services, Illumina

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.1654-6A>G	rs4540995	0.14330
NM_013382.7(POMT2):c.*1337C>T	rs45561437	0.01861
NM_013382.7(POMT2):c.-56G>A	rs567281401	0.01276
NM_013382.7(POMT2):c.*2091G>T	rs139493728	0.00821
NM_013382.7(POMT2):c.*1756C>T	rs148688355	0.00815
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)	rs140785104	0.00496
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)	rs117173425	0.00056
NM_013382.7(POMT2):c.*1893G>A	rs114623446

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.