ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_013382.7(POMT2):c.*1087C>T rs59725094 0.01993
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658

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.