ClinVar Miner

List of variants studied for MYH7-related skeletal myopathy by GeneReviews

Included ClinVar conditions (6):

Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
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 Disorders
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
MYH7-related skeletal myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro)	rs1246272841
NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro)	rs730880806
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)	rs121913648
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)	rs587779396
NM_000257.4(MYH7):c.5566G>A (p.Glu1856Lys)	rs797044598
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	rs397516254

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