ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University and "likely benign" from any submitter

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: 4
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00016
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129

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