ClinVar Miner

List of variants reported as likely pathogenic by University of Washington Department of Laboratory Medicine, University of Washington

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Total variants: 73
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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_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_000051.4(ATM):c.-30-1G>T rs869312754
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.2960G>A (p.Cys987Tyr) rs1555085052
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_000059.4(BRCA2):c.8188G>A (p.Ala2730Thr) rs80359066
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly) rs63750909
NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr) rs1558386797
NM_000179.3(MSH6):c.3414_3416del (p.Gly1139del) rs587781544
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.3(MSH6):c.3801+2T>C rs1558392617
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.3G>T (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.4(MLH1):c.589-2A>C rs267607767
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.3(MSH2):c.1076+1G>T rs267607940
NM_000251.3(MSH2):c.1277-2A>T rs267607949
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg) rs786201590
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1832T>A (p.Val611Glu) rs1553368590
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2211-1G>T rs267607979
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>A rs1060501991
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000969.5(RPL5):c.189+2T>G rs1687004626
NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del) rs1554810408
NM_001243133.2(NLRP3):c.2263G>C (p.Gly755Arg) rs180177469
NM_001903.5(CTNNA1):c.195_198del (p.Glu66fs) rs869312766
NM_003998.4(NFKB1):c.988G>A (p.Val330Met) rs2149192634
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp) rs1555687572
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_032043.2(BRIP1):c.1475del rs869312762
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_133433.4(NIPBL):c.7936_7961del (p.Arg2646fs)

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