List of variants in gene MYH7 reported as pathogenic for Myosin storage 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)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.611G>A (p.Arg204His)	rs397516260	0.00003
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	rs121913627	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	rs753392652	0.00001
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	rs397516089
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	rs397516171
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)	rs121913654
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)	rs28933098
NM_000257.4(MYH7):c.5655+5G>A	rs1595070689
NM_000257.4(MYH7):c.5702A>T (p.His1901Leu)	rs121913649
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)	rs367543053

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