ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Neurology Institute, Anhui University of Chinese Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Neurology Institute, Anhui University of Chinese Medicine: Collection method of the submission from Neurology Institute, Anhui University of Chinese Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444 0.00001

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