ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova and "uncertain significance" from any submitter

Minimum review status of the submission from Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova: Collection method of the submission from Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova:
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_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441

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