ClinVar Miner

List of variants in gene combination LOC126861615, PAH reported as likely pathogenic by Inserm U 954, Faculté de Médecine de Nancy

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.912+3A>C rs281865450

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