ClinVar Miner

List of variants studied for Phenylketonuria by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142

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