ClinVar Miner

Variants with conflicting interpretations "likely benign" from Institute of Human Genetics, University of Leipzig Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University of Leipzig Medical Center: Collection method of the submission from Institute of Human Genetics, University of Leipzig Medical Center:
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_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015

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