ClinVar Miner

List of variants in gene LOC130056177, POMT2 studied for Autosomal recessive limb-girdle muscular dystrophy type 2N

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_013382.7(POMT2):c.-56G>A rs567281401 0.01276
NM_013382.7(POMT2):c.-142C>T rs886050827 0.00068
NM_013382.7(POMT2):c.-149C>A rs886050828 0.00010
NM_013382.7(POMT2):c.-113G>A rs1891868176
NM_013382.7(POMT2):c.-136G>A rs1891870150
NM_013382.7(POMT2):c.-172C>A rs897215490
NM_013382.7(POMT2):c.-176C>G rs978645827

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.