List of variants reported as pathogenic for childhood-onset nemaline myopathy by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	rs769345284	0.00003
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)	rs555445835	0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs)	rs786204430	0.00001
NM_001100.4(ACTA1):c.773G>A (p.Arg258His)	rs1659953887
NM_001164508.2(NEB):c.11806-1G>A	rs886041851
NM_001164508.2(NEB):c.16909-1G>A	rs2153806528
NM_001164508.2(NEB):c.20976del (p.Val6993fs)	rs1559680233
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	rs763364977

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