ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Centre for Translational Omics - GOSgene, University College London and "pathogenic" from any submitter

Minimum review status of the submission from Centre for Translational Omics - GOSgene, University College London: Collection method of the submission from Centre for Translational Omics - GOSgene, University College London:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810

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