ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.533+6T>G rs545924178 0.00018
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala) rs776266174 0.00009
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter) rs750232956 0.00003
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe) rs201044964 0.00003
NM_017534.6(MYH2):c.509G>A (p.Arg170Gln) rs778801023 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017534.6(MYH2):c.571C>T (p.Arg191Cys) rs770369215 0.00001
NM_017534.6(MYH2):c.572G>A (p.Arg191His) rs778659452 0.00001
NM_017534.6(MYH2):c.620A>T (p.Lys207Met) rs373306322 0.00001
NM_017534.6(MYH2):c.649G>A (p.Gly217Arg) rs1204821136 0.00001
NM_017534.6(MYH2):c.688C>T (p.Leu230=) rs375063863 0.00001
NM_017534.6(MYH2):c.737G>A (p.Arg246His) rs773713563 0.00001
NM_017534.6(MYH2):c.814G>C (p.Glu272Gln) rs2073575845 0.00001
NM_017534.6(MYH2):c.541T>C (p.Ser181Pro) rs2073593497
NM_017534.6(MYH2):c.542C>A (p.Ser181Tyr)
NM_017534.6(MYH2):c.545G>A (p.Gly182Asp)
NM_017534.6(MYH2):c.559G>A (p.Val187Met)
NM_017534.6(MYH2):c.579C>T (p.Ile193=) rs886052571
NM_017534.6(MYH2):c.602T>C (p.Val201Ala)
NM_017534.6(MYH2):c.612G>C (p.Glu204Asp) rs1266665896
NM_017534.6(MYH2):c.635C>A (p.Ser212Tyr)
NM_017534.6(MYH2):c.682C>A (p.Pro228Thr) rs367639163
NM_017534.6(MYH2):c.683C>G (p.Pro228Arg) rs1389727909
NM_017534.6(MYH2):c.701G>A (p.Gly234Asp) rs1567736673
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)
NM_017534.6(MYH2):c.715G>A (p.Val239Met)
NM_017534.6(MYH2):c.736C>T (p.Arg246Cys)
NM_017534.6(MYH2):c.737G>T (p.Arg246Leu)
NM_017534.6(MYH2):c.741+6T>C rs2142319220
NM_017534.6(MYH2):c.762C>A (p.His254Gln) rs2073579202
NM_017534.6(MYH2):c.764T>C (p.Phe255Ser)
NM_017534.6(MYH2):c.782T>C (p.Leu261Pro) rs1597457334
NM_017534.6(MYH2):c.798T>G (p.Ile266Met) rs2073578403
NM_017534.6(MYH2):c.824G>T (p.Arg275Ile)

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