List of variants in gene PAH reported as uncertain significance for Inborn genetic diseases

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.30C>G (p.Gly10=)	rs1801145	0.00068
NM_000277.3(PAH):c.299A>G (p.His100Arg)	rs148393887	0.00034
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)	rs62517206	0.00004
NM_000277.3(PAH):c.1282C>G (p.Gln428Glu)	rs567261857	0.00004
NM_000277.3(PAH):c.826A>T (p.Met276Leu)	rs62516149	0.00003
NM_000277.3(PAH):c.1347G>T (p.Gln449His)	rs1258710210	0.00001
NM_000277.3(PAH):c.718T>G (p.Phe240Val)	rs62507337	0.00001
NM_000277.3(PAH):c.1315A>T (p.Ser439Cys)
NM_000277.3(PAH):c.1342C>T (p.Leu448Phe)	rs2499609842
NM_000277.3(PAH):c.413A>G (p.Tyr138Cys)
NM_000277.3(PAH):c.55G>C (p.Gly19Arg)
NM_000277.3(PAH):c.656T>A (p.Phe219Tyr)	rs1164279708
NM_000277.3(PAH):c.668A>G (p.Asn223Ser)	rs201245932
NM_000277.3(PAH):c.821A>G (p.Lys274Arg)	rs1875223959
NM_000277.3(PAH):c.952A>G (p.Ile318Val)	rs1013968856

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