ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (12):

Cap myopathy 1
Cap myopathy 2
Nemaline myopathy 1
Nemaline myopathy 1; Congenital myopathy with fiber type disproportion
Nemaline myopathy 2
Nemaline myopathy 2, autosomal recessive
Nemaline myopathy 3
Nemaline myopathy 3, autosomal dominant or recessive
Nemaline myopathy 3; ACTA1 gene related myopathy
Nemaline myopathy 4
Nemaline myopathy 6
Nemaline myopathy 9

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 3

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HGVS	dbSNP
NM_001271208.2(NEB):c.20401G>T (p.Gly6801Ter)
NM_001271208.2(NEB):c.61G>A (p.Glu21Lys)	rs199907781
NM_152263.4(TPM3):c.329C>T (p.Ala110Val)	rs1558052023

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