ClinVar Miner

List of variants reported as benign for myopathy, distal, with rimmed vacuoles by Genome-Nilou Lab

Included ClinVar conditions (3):

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Myopathy, distal, with rimmed vacuoles
Myopathy, distal, with rimmed vacuoles
Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Myopathy, distal, with rimmed vacuoles

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)	rs4935	0.62369
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)	rs4797	0.53290
NM_003900.5(SQSTM1):c.755-23G>A	rs2241349	0.32312

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