ClinVar Miner

List of variants reported as likely 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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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)	rs121909531
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)	rs367543048
NM_001100.4(ACTA1):c.355G>A (p.Glu119Lys)
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)	rs371410845
NM_001100.4(ACTA1):c.448A>T (p.Thr150Ser)

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