List of variants reported as likely pathogenic for MYH7-related skeletal myopathy

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	rs2754158	0.00003
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)	rs730880761	0.00001
NC_000014.9:g.23415255_23415272del	rs2138638795
NM_000257.4(MYH7):c.3119A>G (p.Gln1040Arg)
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.5042T>C (p.Leu1681Pro)
NM_000257.4(MYH7):c.5560-2A>C	rs1566521710
NM_000257.4(MYH7):c.732+1del	rs397516266

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