ClinVar Miner

List of variants reported as pathogenic for childhood-onset nemaline myopathy by Pediatric Department, Peking University First Hospital

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) rs1553255486
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.6734dup (p.Thr2246fs) rs2099076059

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