List of variants reported as likely pathogenic for Freeman-Sheldon syndrome

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)	rs121913623	0.00001
NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp)	rs797045727
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_002470.4(MYH3):c.2096T>A (p.Val699Asp)
NM_002470.4(MYH3):c.3247_3248+1del
NM_002470.4(MYH3):c.703A>G (p.Lys235Glu)

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