List of variants in gene ATPAF2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)	rs33997182	0.02668
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)	rs62073570	0.00522
NM_145691.4(ATPAF2):c.393C>T (p.Ala131=)	rs202006856	0.00001
NM_145691.4(ATPAF2):c.402_404del (p.Phe134del)	rs765826427
NM_145691.4(ATPAF2):c.680G>A (p.Arg227His)	rs148095363

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