ClinVar Miner

List of variants studied for prenatal-onset spinal muscular atrophy with congenital bone fractures by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001198800.3(ASCC1):c.871+1G>A	rs763845791	0.00001
NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter)	rs778054296
NM_016213.5(TRIP4):c.512G>A (p.Cys171Tyr)	rs2140283605

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