ClinVar Miner

List of variants studied for Myopathy, proximal, and ophthalmoplegia by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter) rs758395765 0.00018
NM_017534.6(MYH2):c.1975-2A>G rs746770617 0.00003
NM_017534.6(MYH2):c.2347C>T (p.Arg783Ter) rs762121316 0.00002
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017534.6(MYH2):c.2116G>A (p.Glu706Lys) rs121434589
NM_017534.6(MYH2):c.2400del (p.Phe801fs) rs879255254
NM_017534.6(MYH2):c.5609T>C (p.Leu1870Pro) rs786201023
NM_017534.6(MYH2):c.706G>A (p.Ala236Thr) rs147708782
NM_017534.6(MYH2):c.904+1G>A rs879255253

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