ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genomics England Pilot Project, Genomics England and "pathogenic" from Reproductive Health Research and Development, BGI Genomics

Minimum review status of the submission from Genomics England Pilot Project, Genomics England: Collection method of the submission from Genomics England Pilot Project, Genomics England:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175

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