List of variants reported as pathogenic for MYH7-related skeletal myopathy by Baylor Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
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.2788G>C (p.Glu930Gln)	rs397516171

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