ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University and "pathogenic" from any submitter

Minimum review status of the submission from Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University: Collection method of the submission from Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University:
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_000368.5(TSC1):c.363+1G>T rs118203372
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261

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