ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Santos-Cortez Lab, University of Colorado School of Medicine and "likely benign" from any submitter

Minimum review status of the submission from Santos-Cortez Lab, University of Colorado School of Medicine: Collection method of the submission from Santos-Cortez Lab, University of Colorado School of Medicine:
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_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_152750.5(CDHR3):c.1516C>T (p.Leu506Phe) rs76067797 0.00424
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_152750.5(CDHR3):c.2392G>T (p.Ala798Ser) rs140818720

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