List of variants studied for Phenylketonuria by MGZ Medical Genetics Center

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		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00034
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00020
NM_000277.3(PAH):c.1199+1G>C	rs62509015

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