ClinVar Miner

List of variants in gene POMT1 reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.*278T>C rs10793885 0.88104
NM_001077365.2(POMT1):c.*348C>T rs7857419 0.87122
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
NM_001077365.2(POMT1):c.*421G>A rs10257 0.11588
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_001077365.2(POMT1):c.*529G>A rs116005066 0.01991
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001077365.2(POMT1):c.*285A>G rs4740259

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.