ClinVar Miner

List of variants in gene POMK reported as likely benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_032237.5(POMK):c.1013T>G (p.Leu338Arg) rs200555259
NM_032237.5(POMK):c.114C>T (p.Leu38=) rs182189714
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747
NM_032237.5(POMK):c.219C>G (p.Ser73=) rs188920070
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063
NM_032237.5(POMK):c.564C>T (p.Ile188=) rs55724435
NM_032237.5(POMK):c.609C>T (p.Cys203=) rs567303957
NM_032237.5(POMK):c.687C>T (p.Asp229=) rs751085294
NM_032237.5(POMK):c.759C>T (p.Phe253=) rs201232766
NM_032237.5(POMK):c.882G>A (p.Gly294=) rs56282240
NM_032237.5(POMK):c.886A>G (p.Ile296Val) rs6990761

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.