List of variants studied for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys)	rs587776960	0.00001
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe)	rs2144178477
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln)	rs2144189607
NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His)	rs1555695342

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