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Symbol	Gene	Chr	Band	Transcripts	Variants	Unique variants	Last updated	Associated with diseases
CFTR	cystic fibrosis transmembrane conductance regulator	7	q31.2	1	225	223	2018-05-07	CF, CFTR-related
PAH	phenylalanine hydroxylase	12	q23.2	1	0	0	N/A	PKU

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