ClinVar Miner

List of variants in gene LOC126861898, MYH7 studied 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
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	rs2754158	0.00003
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)	rs772442923	0.00001
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)	rs1343088568	0.00001
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)	rs397516158	0.00001
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)	rs750204313	0.00001
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr)	rs2138665874
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)	rs1236517740
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)	rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	rs138049878
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)	rs1060505018

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.