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: 4

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HGVS	dbSNP
NM_001164508.2(NEB):c.10872+1G>A
NM_001164508.2(NEB):c.7956+1G>A
NM_001271208.2(NEB):c.24343dup (p.Thr8115fs)	rs1575024425
NM_001271208.2(NEB):c.937C>T (p.Gln313Ter)	rs1577253760

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