ClinVar Miner

List of variants studied for BH4-deficient hyperphenylalaninemia A by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Included ClinVar conditions (1):

6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

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_000317.3(PTS):c.238A>G (p.Met80Val)	rs1057517810
NM_000317.3(PTS):c.2T>G (p.Met1Arg)	rs1859865221
NM_000317.3(PTS):c.342C>G (p.Ile114Met)	rs17851590

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