ClinVar Miner

List of variants in gene PAH reported by Unidade de Bioquimica Genetica,Centro Hospitalar do Porto

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.934G>T (p.Gly312Cys) rs763115697

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