ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_001271208.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001271208.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001271208.2(NEB):c.22853C>G (p.Pro7618Arg) rs1575897069
NM_001271208.2(NEB):c.8889+1G>A rs1553963960

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