ClinVar Miner

List of variants studied for autosomal dominant childhood-onset proximal spinal muscular atrophy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (11):

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Spinal muscular atrophy with lower extremity predominance
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Intellectual disability, autosomal dominant 13
Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13; Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001003800.2(BICD2):c.1126A>G (p.Thr376Ala)	rs757885234	0.00002
NM_001003800.2(BICD2):c.1784C>T (p.Ala595Val)
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	rs587780564
NM_001376.5(DYNC1H1):c.5597T>A (p.Phe1866Tyr)	rs2141289673

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