ClinVar Miner

List of variants reported as pathogenic for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001697.3(ATP5PO):c.329-20A>G	rs772964701
NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)	rs146520965
NM_001697.3(ATP5PO):c.87+3A>G	rs1987287870

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