ClinVar Miner

List of variants studied for nemaline myopathy by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.19843_19853del (p.Tyr6615fs) rs1395114113
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer) rs1369933918

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