ClinVar Miner

List of variants reported as pathogenic for childhood-onset nemaline myopathy by Counsyl

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.2943+1G>A rs113091511 0.00001
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368

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