ClinVar Miner

List of variants studied for Nemaline myopathy 2 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 7
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HGVS dbSNP
NM_001271208.2(NEB):c.1152+5G>A rs111404077
NM_001271208.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.9619-2A>G rs375145370

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