ClinVar Miner

List of variants in gene ACTA1 reported as benign for TPM3-related myopathy

Included ClinVar conditions (16):

Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion
Cap myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy; MYH7-related disorder
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
TPM3-related myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.455-53A>C	rs527621	0.99850
NM_001100.4(ACTA1):c.130-5T>C	rs11803533	0.26938
NM_001100.4(ACTA1):c.130-10G>C	rs41271481	0.20670
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)	rs74897770	0.01920
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)	rs76030344	0.00904
NM_001100.4(ACTA1):c.*248G>A	rs551585351	0.00167
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)	rs146956806	0.00066
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)	rs142311664	0.00050
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)	rs141030526	0.00034
NM_001100.4(ACTA1):c.549G>A (p.Ala183=)	rs200094415	0.00027
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)	rs770931836	0.00001
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)	rs76030344
NM_001100.4(ACTA1):c.809-14G>C	rs6673359

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