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ClinVar Genomic variation as it relates to human health

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NM_000277.3(PAH):c.510-19_667del

Germline
Top reviewed classifications are shown here.
Reviewed by expert panel
Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

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Text-mined citations for this variant ...

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Record last updated Jan 06, 2024