ClinVar Miner

List of variants in gene POMT2 reported as likely benign by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_013382.5(POMT2):c.*1087C>T rs59725094
NM_013382.5(POMT2):c.*1516A>G rs45518539
NM_013382.5(POMT2):c.*1748C>A rs45458096
NM_013382.5(POMT2):c.*2325A>G rs11547793
NM_013382.5(POMT2):c.*587G>A rs10141995
NM_013382.5(POMT2):c.*75C>T rs1055592
NM_013382.5(POMT2):c.-124G>A rs147337187
NM_013382.5(POMT2):c.-128C>T rs116224770
NM_013382.5(POMT2):c.-64G>A rs2270421
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.162G>T (p.Ala54=) rs2270420
NM_013382.5(POMT2):c.1654-6A>G rs4540995

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.