ClinVar Miner

List of variants studied for prenatal-onset spinal muscular atrophy with congenital bone fractures by Centogene AG - the Rare Disease Company

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.583C>T (p.Gln195Ter)	rs769501930	0.00001
NM_001198800.3(ASCC1):c.813G>A (p.Trp271Ter)	rs1845791915
NM_016213.5(TRIP4):c.512G>A (p.Cys171Tyr)	rs2140283605

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