ClinVar Miner

List of variants reported as likely pathogenic for congenital myopathy 7A, myosin storage, autosomal dominant by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (10):

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
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
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; MYH7-related skeletal myopathy
Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; MYH7-related skeletal myopathy
Myosin storage myopathy
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Left ventricular noncompaction

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	rs397516142	0.00002
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	rs727504325	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001

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