List of variants in gene PAH reported as uncertain significance by GeneDx

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_000277.3(PAH):c.30C>G (p.Gly10=)	rs1801145	0.00069
NM_000277.3(PAH):c.299A>G (p.His100Arg)	rs148393887	0.00035
NM_000277.3(PAH):c.1101G>A (p.Leu367=)	rs62508648	0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr)	rs62517164	0.00001
NM_000277.3(PAH):c.169-3T>G	rs1877439666
NM_000277.3(PAH):c.441+6T>A	rs199475698
NM_000277.3(PAH):c.547G>C (p.Glu183Gln)	rs199475664
NM_000277.3(PAH):c.566C>G (p.Thr189Arg)	rs1555204728
NM_000277.3(PAH):c.574A>G (p.Lys192Glu)
NM_000277.3(PAH):c.718T>G (p.Phe240Val)	rs62507337

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