ClinVar Miner

List of variants in gene IGHMBP2 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_002180.2(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs) rs886042313
NM_002180.2(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.2(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.2(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774

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.