ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001101362.2(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.2(KBTBD13):c.2T>G (p.Met1Arg) rs374196960
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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