ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department of Genetics,Sultan Qaboos University Hospital, Oman and "uncertain significance" from any submitter

Minimum review status of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman: Collection method of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman:
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
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_153033.4(KCTD7):c.335G>A (p.Arg112His) rs774026720

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