ClinVar Miner

List of variants reported as pathogenic for childhood-onset nemaline myopathy by Baylor Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.4(ACTA1):c.400A>G (p.Met134Val) rs1659974377
NM_001164508.2(NEB):c.13285G>T (p.Glu4429Ter) rs2097550591
NM_001164508.2(NEB):c.5388T>A (p.Tyr1796Ter) rs2099187757

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