ClinVar Miner

List of variants reported as likely pathogenic for Nemaline myopathy 2 by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 3

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HGVS	dbSNP
NM_001271208.2(NEB):c.19626+1G>A
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter)	rs549794342
NM_001271208.2(NEB):c.2416-1G>C	rs1553565278

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