ClinVar Miner

List of variants in gene NEB reported as uncertain significance for Nemaline Myopathy, Recessive

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Total variants: 9
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HGVS dbSNP
NM_001271208.2(NEB):c.17193G>A (p.Lys5731=) rs886054939
NM_001271208.2(NEB):c.17635-15_17635-14dup rs3214503
NM_001271208.2(NEB):c.17635-3del rs3214503
NM_001271208.2(NEB):c.19428+8_19428+9insA rs886054936
NM_001271208.2(NEB):c.20467-20_20467-18dup rs10687343
NM_001271208.2(NEB):c.20467-20_20467-19dup rs10687343
NM_001271208.2(NEB):c.20467-20dup rs10687343
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.780A>G (p.Pro260=) rs80255720

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