ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles and "uncertain significance" from any submitter

Minimum review status of the submission from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles: Collection method of the submission from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles:
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 gnomAD frequency
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666 0.00002
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163

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