ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics and "likely pathogenic" from any submitter

Minimum review status of the submission from Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics: Collection method of the submission from Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics:
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_001032221.6(STXBP1):c.1110+2T>G
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574

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