ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as pathogenic for Nemaline myopathy

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Total variants: 4
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HGVS dbSNP
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.25241T>G (p.Leu8414Ter) rs760200697

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