ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clingen PTEN Variant Curation Expert Panel, Clingen and "uncertain significance" from any submitter

Minimum review status of the submission from Clingen PTEN Variant Curation Expert Panel, Clingen: Collection method of the submission from Clingen PTEN Variant Curation Expert Panel, Clingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.8(PTEN):c.633C>G (p.Cys211Trp) rs121909232

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