ClinVar Miner

List of variants studied for Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00001
NM_017866.6(TMEM70):c.378dup (p.Thr127fs) rs1554599411

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