ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Wessex Regional Genetics Laboratory,Salisbury District Hospital and "pathogenic" from OMIM

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: 4
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HGVS dbSNP
NM_000280.4(PAX6):c.76C>G (p.Arg26Gly) rs121907913
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752

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