List of variants reported as pathogenic for Nemaline myopathy 2 by Mendelics

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Total variants: 6

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HGVS	dbSNP
NM_001271208.2(NEB):c.1674+2T>C	rs1553603437
NM_001271208.2(NEB):c.20467-2A>C
NM_001271208.2(NEB):c.22432C>T (p.Arg7478Ter)
NM_001271208.2(NEB):c.23245C>T (p.Arg7749Ter)
NM_001271208.2(NEB):c.23952del (p.Glu7985fs)
NM_001271208.2(NEB):c.24409_24410dup (p.Leu8137fs)

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