List of variants in gene MYH7 studied for Congenital myopathy with fiber type disproportion

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)	rs727504342	0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)	rs730880923	0.00002
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)	rs397516196	0.00001
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)	rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	rs727503263
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)	rs1247313340
NM_000257.4(MYH7):c.2923G>A (p.Val975Met)	rs1892576769
NM_000257.4(MYH7):c.5333A>C (p.His1778Pro)	rs1892139406
NM_000257.4(MYH7):c.5560-2A>C	rs1566521710
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)	rs367543053

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