ClinVar Miner

List of variants in gene POMGNT1 studied for cobblestone lissencephaly

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_017739.3(POMGNT1):c.121-2A>G rs1057516871
NM_017739.3(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.3(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.3(POMGNT1):c.236-1G>T rs1057516477
NM_017739.3(POMGNT1):c.25dup (p.Leu9fs) rs386834027
NM_017739.3(POMGNT1):c.269G>A (p.Arg90His) rs139701867
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_017739.3(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073
NM_017739.3(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.3(POMGNT1):c.354+1G>A rs1057517449
NM_017739.3(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) rs1057516478

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.