ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Medical Genetics, University of Torino and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, University of Torino: Collection method of the submission from Laboratory of Medical Genetics, University of Torino:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter)
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) rs2082811958
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) rs1135401794
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264

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