ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Richard Lifton Laboratory, Yale University School of Medicine and "pathogenic" from any submitter

Minimum review status of the submission from Richard Lifton Laboratory, Yale University School of Medicine: Collection method of the submission from Richard Lifton Laboratory, Yale University 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_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_000546.6(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319

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