ClinVar Miner

List of variants reported as not provided for TPM2-related myopathy

Included ClinVar conditions (17):

Arthrogryposis, distal, type 1A; Congenital myopathy 23
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion
Central core myopathy
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
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 multicore myopathy with external ophthalmoplegia; 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
Central core myopathy; Neuromuscular disease
Congenital myopathy 23
TPM2-related myopathy

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)	rs193922855	0.00163
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00104
NM_000540.3(RYR1):c.6891+3G>T	rs373333757	0.00006
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)	rs139006437	0.00004
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met)	rs1236057233	0.00003
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)	rs763360938	0.00002
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)	rs990842315	0.00001
NM_000540.3(RYR1):c.3200G>A (p.Arg1067His)	rs377381782	0.00001
NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val)	rs1374486975	0.00001
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	rs104894129

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.