ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University and "pathogenic" from Counsyl

Minimum review status of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University: Collection method of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001

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