ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne and "pathogenic" from any submitter

Minimum review status of the submission from German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne: Collection method of the submission from German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477

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