ClinVar Miner

List of variants reported as pathogenic for prenatal-onset spinal muscular atrophy with congenital bone fractures by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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

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HGVS	dbSNP	gnomAD frequency
NM_001198800.3(ASCC1):c.626+1G>A	rs747595523	0.00001
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter)	rs746994660

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