ClinVar Miner

List of variants in gene TPM3 reported as not provided 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)	rs199474720	0.00001
NM_152263.4(TPM3):c.11C>T (p.Ala4Val)	rs199474711
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)	rs80358247
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)	rs199474713
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)	rs121964853
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)	rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)	rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His)	rs121964852
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu)	rs199474715
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys)	rs199474717
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly)	rs199474718
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)	rs80358248

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