List of variants reported as pathogenic for Phenylketonuria by Mendelics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_000277.3(PAH):c.168+5G>C	rs62507288	0.00003
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)	rs1592947538
NM_000277.3(PAH):c.168+5G>A	rs62507288
NM_000277.3(PAH):c.239dup (p.Thr81fs)	rs1592978816
NM_000277.3(PAH):c.722G>A (p.Arg241His)	rs62508730

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