List of variants reported as likely benign for Autosomal recessive limb-girdle muscular dystrophy type 2K 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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.699+52C>T	rs3887873	0.12205
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)	rs4740164	0.04243
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)	rs12115566	0.01621
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=)	rs62636653	0.01037
NM_001077365.2(POMT1):c.1125C>T (p.His375=)	rs35242383	0.01019
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys)	rs147266709	0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)	rs149554732	0.00980
NM_001077365.2(POMT1):c.-6T>G	rs62620173	0.00840
NM_001077365.2(POMT1):c.1826-6C>A	rs140258585	0.00816
NM_001077365.2(POMT1):c.1826-7C>A	rs148180760	0.00816
NM_001077365.2(POMT1):c.*206A>G	rs111470256	0.00610
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)	rs138171526	0.00378
NM_001077365.2(POMT1):c.1585-14C>T	rs78529026	0.00332
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)	rs150814269	0.00324
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	rs117985576	0.00169

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.