ClinVar Miner

List of variants studied for Myopathy, proximal, and ophthalmoplegia by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
NM_017534.6(MYH2):c.2304+7T>G rs370223713 0.00034
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=) rs200505060 0.00034
NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr) rs778405343 0.00002
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930

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