ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Illumina Laboratory Services, Illumina and "pathogenic" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_001371596.2(MFSD8):c.754+2T>A rs587778809 0.00003
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233

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