ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Belal Azab Laboratory, The University of Jordan and "likely pathogenic" from any submitter

Minimum review status of the submission from Belal Azab Laboratory, The University of Jordan: Collection method of the submission from Belal Azab Laboratory, The University of Jordan:
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_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607

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