ClinVar Miner

List of variants studied for Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) rs796052056 0.00003

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