ClinVar Miner

List of variants in gene PAH reported by Department of Prenatal Diagnosis, Center for Genetic Medicine,Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University

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Total variants: 4
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HGVS dbSNP
NM_000277.2(PAH):c.1172G>C (p.Ser391Thr) rs869312997
NM_000277.2(PAH):c.320A>G (p.His107Arg) rs542645236
NM_000277.3(PAH):c.110T>C (p.Leu37Pro) rs869312996
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939

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