ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter) rs1405498595
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023

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