ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Reproductive Health Research and Development, BGI Genomics and "uncertain significance" from any submitter

Minimum review status of the submission from Reproductive Health Research and Development, BGI Genomics: Collection method of the submission from Reproductive Health Research and Development, BGI Genomics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014

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