ClinVar Miner

List of variants reported as pathogenic for childhood-onset nemaline myopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (14):

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_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	rs1266535163
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	rs1553939600

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