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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs)	rs1559207733	0.00001
NM_001164508.2(NEB):c.1674+2T>C	rs1553603437
NM_001164508.2(NEB):c.20467-2A>C	rs1392500142
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)	rs1576203853
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	rs1575714905
NM_001164508.2(NEB):c.23847del (p.Glu7950fs)	rs1575305566
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)	rs2153020985
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	rs1553555882
NM_001164508.2(NEB):c.870_873del (p.Ser290fs)	rs2150050727

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