ClinVar Miner

List of variants reported as pathogenic for Nemaline myopathy 3 by OMIM

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Total variants: 11
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NM_001100.3(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.3(ACTA1):c.1075A>C (p.Ile359Leu) rs121909524
NM_001100.3(ACTA1):c.287T>C (p.Leu96Pro) rs121909519
NM_001100.3(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.3(ACTA1):c.414C>G (p.Ile138Met) rs121909526
NM_001100.3(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.3(ACTA1):c.493G>T (p.Val165Leu) rs121909522
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.808G>T (p.Gly270Cys) rs121909525
NM_001100.3(ACTA1):c.984G>C (p.Lys328Asn) rs398122936

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