ClinVar Miner

List of variants studied for Phenylketonuria by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000277.3(PAH):c.912+2T>C rs281865449

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