ClinVar Miner

List of variants in gene MHRT, 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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.4520-25C>T	rs45503601	0.00787
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	rs201307101	0.00024
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)	rs139646545	0.00009
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	rs727503244	0.00006
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)	rs144200285	0.00005
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)	rs376854724	0.00002
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)	rs745414245	0.00001
NM_000257.4(MYH7):c.4353+20C>T	rs199912646	0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)	rs1351661186	0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)	rs397516225	0.00001
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)	rs2138645345
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)	rs45544633
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val)	rs1555336580
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro)	rs1892234748
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)	rs730880804
NM_000257.4(MYH7):c.4644+5G>C	rs730880797

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