ClinVar Miner

List of variants studied for nemaline myopathy 2 by Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.11601+5G>A
NM_001164508.2(NEB):c.16909-2A>G
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882

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