ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genome-Nilou Lab and "pathogenic" from Genomic Research Center, Shahid Beheshti University of Medical Sciences

Minimum review status of the submission from Genome-Nilou Lab: Collection method of the submission from Genome-Nilou Lab:
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_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899

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