ClinVar Miner

Variants with conflicting interpretations "benign" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "other" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP
NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000155.3(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421

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