ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (18):

Actin accumulation myopathy
Actin accumulation myopathy; ACTA1 gene related myopathy
Actin accumulation myopathy; Congenital myopathy 2c, severe infantile, autosomal dominant
Actin accumulation myopathy; Congenital myopathy 4A, autosomal dominant; Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy; Progressive scapulohumeroperoneal distal myopathy; Congenital myopathy 2b, severe infantile, autosomal recessive; Congenital myopathy 2c, severe infantile, autosomal dominant
Actin accumulation myopathy; Progressive scapulohumeroperoneal distal myopathy; Congenital myopathy 2c, severe infantile, autosomal dominant
Arthrogryposis, distal, type 1A; Congenital myopathy 23
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion
Congenital myopathy 23
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive; Congenital myopathy 4A, autosomal dominant
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion
Nemaline myopathy 2
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6
Nemaline myopathy 3, autosomal dominant or recessive
Nemaline myopathy 6
Nemaline myopathy 9

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.12018+1G>A	rs762278237	0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	rs754272530	0.00003

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