List of variants in gene PAH reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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.1282C>T (p.Gln428Ter)	rs567261857
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	rs199475624
NM_000277.3(PAH):c.441+6T>A	rs199475698
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)	rs1565853526

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