List of variants in gene PAH reported as pathogenic by Center for Molecular Medicine, Children’s Hospital of Fudan University

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)	rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	rs1592947508
NM_000277.3(PAH):c.1200-2A>C	rs1592945607
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)	rs1592945394
NM_000277.3(PAH):c.1316-1G>A	rs1592944816
NM_000277.3(PAH):c.32T>A (p.Leu11Ter)	rs1346707834
NM_000277.3(PAH):c.346_347del (p.Asp116fs)	rs1592978629
NM_000277.3(PAH):c.590T>A (p.Leu197Ter)	rs886042078

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