ClinVar Miner

List of variants in gene combination LOC126859921, SUN1 reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130965.3(SUN1):c.69T>C (p.Tyr23=) rs373597219 0.00007
NM_001130965.3(SUN1):c.72G>A (p.Ala24=) rs560089031 0.00004
NM_001130965.3(SUN1):c.48G>A (p.Pro16=) rs774055457 0.00003
NM_001130965.3(SUN1):c.42T>C (p.Cys14=) rs1470629872
NM_001130965.3(SUN1):c.77+12C>T
NM_001130965.3(SUN1):c.77+13C>T
NM_001130965.3(SUN1):c.77+18C>T
NM_001130965.3(SUN1):c.77+19G>A

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.