ClinVar Miner

Variants with conflicting interpretations "pathogenic" 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: 3
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016

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