ClinVar Miner

List of variants reported for Phenylketonuria by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001

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