ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Wessex Regional Genetics Laboratory, Salisbury District Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Wessex Regional Genetics Laboratory, Salisbury District Hospital: Collection method of the submission from Wessex Regional Genetics Laboratory, Salisbury District Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160

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