ClinVar Miner

List of variants reported as likely pathogenic for Myopathy, areflexia, respiratory distress, and dysphagia, early-onset

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Total variants: 4
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HGVS dbSNP
NM_001256545.2(MEGF10):c.2104+1G>A
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143
NM_001256545.2(MEGF10):c.319+1G>C rs931073338
NM_001256545.2(MEGF10):c.412+2T>C rs1561599823

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