ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology and "uncertain significance" from any submitter

Minimum review status of the submission from Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology: Collection method of the submission from Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology:
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_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_001037.5(SCN1B):c.448+201C>T rs2151746638
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter) rs757546009
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His) rs1572531765

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