ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from University of Washington Department of Laboratory Medicine, University of Washington and "pathogenic" 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: 21
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410

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