List of variants reported as likely pathogenic for childhood-onset nemaline myopathy by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	0.00009
NM_001164508.2(NEB):c.23742+2T>C	rs545937015	0.00006
NM_001164508.2(NEB):c.18472-1G>C	rs1203257517	0.00003
NM_001164508.2(NEB):c.1365+2T>C	rs770797137	0.00001
NM_001164508.2(NEB):c.18891+1G>A	rs1443738549	0.00001
NM_001164508.2(NEB):c.19101+5G>A	rs374929094	0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	rs760935667	0.00001
NM_001164508.2(NEB):c.23127+2T>C	rs112610938	0.00001
NM_001164508.2(NEB):c.24393+1G>A	rs775631800	0.00001
NM_001164508.2(NEB):c.13060-2A>G	rs2097571378
NM_001164508.2(NEB):c.13476+1G>A	rs1578868550
NM_001164508.2(NEB):c.13477-2A>G	rs2153903681
NM_001164508.2(NEB):c.23743-1G>C	rs797045098
NM_001164508.2(NEB):c.2836-2A>G	rs1208297049
NM_001164508.2(NEB):c.8889+1G>A	rs1553963960
NM_001164508.2(NEB):c.8994+1G>A	rs2098817648

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