List of variants reported as likely pathogenic for Phenylketonuria by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00019
NM_000277.3(PAH):c.212G>A (p.Arg71His)	rs62508695	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)	rs62508578	0.00001
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	rs281865443

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