ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "likely benign" from Institute of Human Genetics, University of Leipzig Medical Center

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094

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