ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_001271208.2(NEB):c.21898C>T (p.Arg7300Ter) rs750900690
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs) rs1257495033

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