List of variants reported as pathogenic for childhood-onset nemaline myopathy by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.489C>A (p.His163Gln)	rs1571893383
NM_001164508.2(NEB):c.10872+1G>A	rs1336053002
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs)	rs1575024425
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	rs202048855
NM_001164508.2(NEB):c.7956+1G>A	rs2098919015
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter)	rs1577253760

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