ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00068
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_017534.6(MYH2):c.1008+1G>A rs781504304 0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter) rs780124402 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_017534.6(MYH2):c.1975-1G>C rs201082272 0.00001
NM_017534.6(MYH2):c.2063-2A>T rs1349048266 0.00001
NM_017534.6(MYH2):c.4537+1G>A rs567336764 0.00001
NM_017534.6(MYH2):c.533+1G>A rs754104695 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NC_000017.10:g.(?_10432333)_(10434433_?)del
NM_017534.6(MYH2):c.1313del (p.Met438fs)
NM_017534.6(MYH2):c.1417-2_1417-1delinsCC rs2073501817
NM_017534.6(MYH2):c.1897+1G>T
NM_017534.6(MYH2):c.2305-1G>A rs2142305562
NM_017534.6(MYH2):c.3002del (p.Glu1001fs) rs797045096
NM_017534.6(MYH2):c.4180G>T (p.Glu1394Ter)
NM_017534.6(MYH2):c.4537+1G>C rs567336764
NM_017534.6(MYH2):c.4537+2T>G rs2142293525
NM_017534.6(MYH2):c.4639C>T (p.Gln1547Ter)
NM_017534.6(MYH2):c.4662+1G>A
NM_017534.6(MYH2):c.4662+2T>G rs1597448170
NM_017534.6(MYH2):c.4663-1G>C
NM_017534.6(MYH2):c.4972-2A>T rs201790813
NM_017534.6(MYH2):c.533+2T>G rs2142319855
NM_017534.6(MYH2):c.5473-2A>C rs2142290339
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_017534.6(MYH2):c.5651A>C (p.Tyr1884Ser)
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017534.6(MYH2):c.741+1G>A rs770945288
NM_017534.6(MYH2):c.742-1G>C rs2142318412

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