ClinVar Miner

List of variants in gene PTS, TEX12 studied for BH4-deficient hyperphenylalaninemia A

Included ClinVar conditions (1):
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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518

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