ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset nemaline myopathy by 3billion

Included ClinVar conditions (18):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.854T>G (p.Met285Arg)
NM_001164508.2(NEB):c.10384C>T (p.Gln3462Ter)
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	rs202048855

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