ClinVar Miner

List of variants studied for phenylketonuria by Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital

Included ClinVar conditions (3):

Mild hyperphenylalaninemia
Mild non-PKU hyperphenylalanemia
Phenylketonuria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.60+62C>T	rs1522296	0.34408
NM_000277.3(PAH):c.3G>C (p.Met1Ile)	rs62514893
NM_000277.3(PAH):c.782G>T (p.Arg261Leu)	rs5030849

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