ClinVar Miner

List of variants in gene combination ASTN2, TRIM32 reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2H

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_001365068.1(ASTN2):c.2806+26470del rs1588218453
NM_001365068.1(ASTN2):c.2806+26570C>T rs111033570
NM_001365068.1(ASTN2):c.2806+26828T>A rs747266069
NM_001365068.1(ASTN2):c.2806+26848C>T rs121434447

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.