ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department of Biochemistry, Faculty of Medicine, University of Khartoum and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Biochemistry, Faculty of Medicine, University of Khartoum: Collection method of the submission from Department of Biochemistry, Faculty of Medicine, University of Khartoum:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824

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