ClinVar Miner

List of variants in gene POMT1 reported as likely pathogenic for cobblestone lissencephaly

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_007171.3(POMT1):c.1053-2A>C rs1453773610
NM_007171.3(POMT1):c.1338+2T>C rs1564365317
NM_007171.3(POMT1):c.1958C>T (p.Pro653Leu) rs149682171
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) rs119462987
NM_007171.3(POMT1):c.485del (p.Phe162fs) rs1250351189

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.