ClinVar Miner

List of variants reported as likely pathogenic for Myopathy, proximal, and ophthalmoplegia

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Total variants: 16
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NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606
NM_017534.6(MYH2):c.1975-1G>C rs201082272
NM_017534.6(MYH2):c.2063-2A>T rs1349048266
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_017534.6(MYH2):c.3002del (p.Glu1001fs) rs797045096
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016
NM_017534.6(MYH2):c.4537+1G>C rs567336764
NM_017534.6(MYH2):c.4662+2T>G rs1597448170
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_017534.6(MYH2):c.5472+1G>A rs758888662
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017534.6(MYH2):c.741+1G>A rs770945288

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