ClinVar Miner

List of variants in gene ATP5F1A studied for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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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