ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Ding PR Lab, Sun Yat-sen University Cancer Center and "likely benign" 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: 6
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000535.7(PMS2):c.706-4dup rs60794673

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