ClinVar Miner

List of variants reported as likely pathogenic for Nemaline myopathy 8

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Total variants: 8
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NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563
NM_152393.4(KLHL40):c.1152+2T>A rs1575219191
NM_152393.4(KLHL40):c.1153-2A>T rs752493018
NM_152393.4(KLHL40):c.1421+1G>T rs1186218257
NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter)
NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro) rs778303947
NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter) rs1575218072
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033

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