ClinVar Miner

List of variants reported as pathogenic for prenatal-onset spinal muscular atrophy with congenital bone fractures by Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire

Included ClinVar conditions (3):

Spinal muscular atrophy with congenital bone fractures 1
Spinal muscular atrophy with congenital bone fractures 1; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Spinal muscular atrophy with congenital bone fractures 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter)	rs183415577	0.00006
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947

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.