ClinVar Miner

List of variants in gene NEB studied for Nemaline myopathy 2, autosomal recessive

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Total variants: 7
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NM_001271208.2(NEB):c.1471-1G>A rs1553605995
NM_001271208.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001271208.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001271208.2(NEB):c.3567+1G>A rs587780399
NM_001271208.2(NEB):c.3774+1G>A rs111293259

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