ClinVar Miner

List of variants in gene PAH reported as benign for not specified

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.1316-35C>T rs62509021
NM_000277.3(PAH):c.168+19T>C rs17842947
NM_000277.3(PAH):c.353-22C>T rs2037639
NM_000277.3(PAH):c.441+47C>T rs1718301
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.969+43G>T rs1522306

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