ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genomic Medicine Lab, University of California San Francisco and "pathogenic" from any submitter

Minimum review status of the submission from Genomic Medicine Lab, University of California San Francisco: Collection method of the submission from Genomic Medicine Lab, University of California San Francisco:
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_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del) rs1064794956

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