ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from CHU Sainte-Justine Research Center, University of Montreal and "pathogenic" from any submitter

Minimum review status of the submission from CHU Sainte-Justine Research Center, University of Montreal: Collection method of the submission from CHU Sainte-Justine Research Center, University of Montreal:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_022662.4(ANAPC1):c.2705-198C>T rs999743155 0.00002
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003

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