ClinVar Miner

List of variants reported as likely pathogenic for Imerslund-Gräsbeck syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889
NM_001081.4(CUBN):c.6125-2A>G rs75386064
NM_001081.4(CUBN):c.7534-1G>T rs1588639188

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.