ClinVar Miner

List of variants in gene combination LOC126862501, MYH2, MYHAS reported as likely pathogenic for Myopathy, proximal, and ophthalmoplegia

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.533+1G>A rs754104695 0.00001
NM_017534.6(MYH2):c.533+2T>G rs2142319855
NM_017534.6(MYH2):c.741+1G>A rs770945288
NM_017534.6(MYH2):c.742-1G>C rs2142318412

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