List of variants reported as likely pathogenic for mitochondrial complex V (ATP synthase) deficiency nuclear type 2

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_017866.6(TMEM70):c.105dup (p.Val36fs)	rs1411381518	0.00001
NC_000008.10:g.(?_74890971)_(74891116_?)del
NM_017866.6(TMEM70):c.210+1G>A
NM_017866.6(TMEM70):c.211-2A>G
NM_017866.6(TMEM70):c.211-6_220del
NM_017866.6(TMEM70):c.2T>C (p.Met1Thr)	rs1815641175
NM_017866.6(TMEM70):c.30_31dup (p.Ala11fs)
NM_017866.6(TMEM70):c.382C>T (p.Gln128Ter)
NM_017866.6(TMEM70):c.464_465insT (p.Val157fs)
NM_017866.6(TMEM70):c.497_498del (p.Tyr166fs)
NM_017866.6(TMEM70):c.54_73del (p.Arg19fs)
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs)	rs777501387
NM_017866.6(TMEM70):c.582_583del (p.Phe195fs)
NM_017866.6(TMEM70):c.620del (p.His207fs)

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