List of variants in gene POMK studied for Limb-girdle muscular dystrophy due to POMK deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_032237.5(POMK):c.282+34C>A	rs5024011	0.99646
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)	rs202036744	0.00017
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)	rs528307346	0.00001
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)	rs587777423
NM_032237.5(POMK):c.965C>T (p.Pro322Leu)	rs747083630

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.