ClinVar Miner

List of variants reported as pathogenic for progressive scapulohumeroperoneal distal myopathy

Included ClinVar conditions (5):

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
Progressive scapulohumeroperoneal distal myopathy

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	rs121909523	0.00003
NM_001100.4(ACTA1):c.493G>C (p.Val165Leu)	rs121909522
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)	rs121909521
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp)	rs869312739
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val)	rs1553255357

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