ClinVar Miner

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

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Total variants: 6
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NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.20467-2A>C rs1392500142
NM_001271208.2(NEB):c.22432C>T (p.Arg7478Ter) rs1576203853
NM_001271208.2(NEB):c.23245C>T (p.Arg7749Ter) rs1575714905
NM_001271208.2(NEB):c.23952del (p.Glu7985fs) rs1575305566
NM_001271208.2(NEB):c.24409_24410dup (p.Leu8137fs) rs1559207733

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