ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Precision Medicine Center, Zhengzhou University and "likely pathogenic" from any submitter

Minimum review status of the submission from Precision Medicine Center, Zhengzhou University: Collection method of the submission from Precision Medicine Center, Zhengzhou University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604
NM_033380.3(COL4A5):c.1033-6A>G rs869025330

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