ClinVar Miner

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

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000277.3(PAH):c.1315+20C>T rs190655222 0.00250
NM_000277.3(PAH):c.441+20G>A rs111842675 0.00229
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00036
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741 0.00008
NM_000277.3(PAH):c.1316-5T>C rs62509020
NM_000277.3(PAH):c.168G>A (p.Glu56=) rs199475567
Single allele

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