ClinVar Miner

List of variants studied for Phenylketonuria by Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.997C>T (p.Leu333Phe) rs62516060 0.00001
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.3(PAH):c.199T>G (p.Ser67Ala) rs5030842
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847

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