ClinVar Miner

List of variants reported as 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: 2

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HGVS	dbSNP
NM_001271208.2(NEB):c.24343dup (p.Thr8115fs)
NM_001271208.2(NEB):c.937C>T (p.Gln313Ter)

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