ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Pediatric Metabolic Diseases, Hacettepe University and "pathogenic" from any submitter

Minimum review status of the submission from Pediatric Metabolic Diseases, Hacettepe University: Collection method of the submission from Pediatric Metabolic Diseases, Hacettepe University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) rs104894530
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141

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