ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Ding PR Lab, Sun Yat-sen University Cancer Center and "pathogenic" from any submitter

Minimum review status of the submission from Ding PR Lab, Sun Yat-sen University Cancer Center: Collection method of the submission from Ding PR Lab, Sun Yat-sen University Cancer Center:
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_000249.4(MLH1):c.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781

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