ClinVar Miner

List of variants in gene PAH reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 10
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NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) rs62507265
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644

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