ClinVar Miner

List of variants reported as benign for Myopathy, proximal, and ophthalmoplegia by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.324A>G (p.Glu108=) rs12600539 0.42634
NM_017534.6(MYH2):c.742-30A>C rs11078849 0.40629
NM_017534.6(MYH2):c.904+10G>A rs719277 0.39768
NM_017534.6(MYH2):c.2697+25A>G rs3744565 0.39755
NM_017534.6(MYH2):c.3263+15A>G rs2277651 0.34231
NM_017534.6(MYH2):c.399T>A (p.Pro133=) rs11078850

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