ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from University of Washington Department of Laboratory Medicine, University of Washington and "uncertain significance" from any submitter

Minimum review status of the submission from University of Washington Department of Laboratory Medicine, University of Washington: Collection method of the submission from University of Washington Department of Laboratory Medicine, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008

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