ClinVar Miner

List of variants in gene MYH7 reported as uncertain significance for Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.1886C>T (p.Ala629Val)	rs140824103	0.00001
NM_000257.4(MYH7):c.3778C>T (p.Arg1260Trp)	rs755386220	0.00001

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