ClinVar Miner

List of variants reported as uncertain significance by University of Washington Department of Laboratory Medicine, University of Washington

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ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn) rs145236923 0.00129
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000077.5(CDKN2A):c.457+929C>T rs869312793 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_133510.4(RAD51B):c.139C>T (p.Arg47Ter) rs200355697 0.00006
NM_000038.6(APC):c.4424C>T (p.Ala1475Val) rs375380414 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) rs587780715 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_000038.6(APC):c.4073C>T (p.Ala1358Val) rs730881249 0.00004
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr) rs200938360 0.00004
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys) rs369456858 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys) rs143517321 0.00003
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp) rs61751644 0.00003
NM_000251.3(MSH2):c.1429A>C (p.Asn477His) rs587781346 0.00003
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_001130009.3(GEN1):c.1202G>A (p.Arg401Gln) rs755927285 0.00003
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser) rs587781898 0.00003
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_000179.3(MSH6):c.1082G>A (p.Arg361His) rs63750440 0.00002
NM_000179.3(MSH6):c.2315G>A (p.Arg772Gln) rs63750725 0.00002
NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser) rs772514245 0.00002
NM_000249.4(MLH1):c.482C>T (p.Thr161Met) rs763992299 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_001184.4(ATR):c.7220G>A (p.Arg2407His) rs778835776 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.2210C>T (p.Ala737Val) rs869312798 0.00001
NM_000179.3(MSH6):c.2876G>A (p.Arg959His) rs757653982 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.44C>T (p.Pro15Leu) rs869312800 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.1558+4C>T rs531873434 0.00001
NM_000249.4(MLH1):c.1897-7C>T rs373078652 0.00001
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn) rs587781331 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln) rs138465383 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389 0.00001
NM_001114122.3(CHEK1):c.1135C>T (p.Arg379Ter) rs756054805 0.00001
NM_001130009.3(GEN1):c.953+4A>G rs869312794 0.00001
NM_001184.4(ATR):c.4957C>T (p.Arg1653Ter) rs778813551 0.00001
NM_001903.5(CTNNA1):c.1185G>A (p.Leu395=) rs748186935 0.00001
NM_004360.5(CDH1):c.387+1G>A rs587781919 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_139076.3(ABRAXAS1):c.712del (p.Gln238fs) rs771336457 0.00001
NM_000038.6(APC):c.3080A>G (p.Tyr1027Cys) rs869312784
NM_000038.6(APC):c.7235A>G (p.Lys2412Arg) rs869312785
NM_000038.6(APC):c.8513dup (p.Tyr2838Ter) rs869312786
NM_000038.6(APC):c.920A>T (p.His307Leu) rs869312787
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.4(ATM):c.7788+3A>T rs869312788
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys) rs431825362
NM_000179.3(MSH6):c.1046A>G (p.Gln349Arg) rs869312797
NM_000179.3(MSH6):c.1093T>C (p.Trp365Arg) rs752628520
NM_000179.3(MSH6):c.1184C>T (p.Thr395Ile) rs767658494
NM_000179.3(MSH6):c.1290G>A (p.Gly430=) rs1558661242
NM_000179.3(MSH6):c.1401C>T (p.Gly467=) rs1558661556
NM_000179.3(MSH6):c.1675T>C (p.Cys559Arg) rs1558662565
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.3(MSH6):c.2161A>C (p.Arg721=) rs537604099
NM_000179.3(MSH6):c.2195G>A (p.Arg732Gln) rs749746725
NM_000179.3(MSH6):c.2287G>A (p.Asp763Asn) rs1558664969
NM_000179.3(MSH6):c.2636C>A (p.Ala879Asp) rs1558666061
NM_000179.3(MSH6):c.2660T>C (p.Leu887Pro) rs1558666142
NM_000179.3(MSH6):c.2743G>A (p.Ala915Thr) rs1558666565
NM_000179.3(MSH6):c.2743G>T (p.Ala915Ser) rs1558666565
NM_000179.3(MSH6):c.3010A>G (p.Lys1004Glu) rs1558667702
NM_000179.3(MSH6):c.3139T>C (p.Trp1047Arg) rs1114167753
NM_000179.3(MSH6):c.3214G>A (p.Gly1072Ser) rs1558386938
NM_000179.3(MSH6):c.3438+2T>C rs1033749344
NM_000179.3(MSH6):c.3442G>A (p.Gly1148Ser) rs63750257
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp) rs752212361
NM_000179.3(MSH6):c.3508A>C (p.Ile1170Leu) rs1558389423
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr) rs869312799
NM_000179.3(MSH6):c.3963A>G (p.Arg1321=) rs267608125
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys) rs1060502885
NM_000179.3(MSH6):c.556G>T (p.Asp186Tyr) rs1212607928
NM_000179.3(MSH6):c.884A>T (p.Lys295Ile) rs267608051
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln) rs765237563
NM_000249.3(MLH1):c.1668-?_2103+?dup
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.4(MLH1):c.139A>G (p.Ile47Val) rs1559505924
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.4(MLH1):c.1668-5T>G rs1559578408
NM_000249.4(MLH1):c.1731+1G>C rs267607853
NM_000249.4(MLH1):c.176T>A (p.Ile59Asn) rs1559506199
NM_000249.4(MLH1):c.1889T>A (p.Ile630Asn) rs1559588836
NM_000249.4(MLH1):c.1925T>A (p.Leu642Gln) rs1559590916
NM_000249.4(MLH1):c.1997G>C (p.Trp666Ser) rs886039424
NM_000249.4(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.4(MLH1):c.2054C>A (p.Ser685Tyr) rs1064796101
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.790+4A>T rs267607786
NM_000249.4(MLH1):c.835G>C (p.Val279Leu) rs1559539382
NM_000251.3(MSH2):c.-12G>A rs1558450937
NM_000251.3(MSH2):c.1033T>G (p.Trp345Gly) rs1558466616
NM_000251.3(MSH2):c.1071G>A (p.Glu357=) rs587781617
NM_000251.3(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.3(MSH2):c.1357A>C (p.Met453Leu) rs1558493602
NM_000251.3(MSH2):c.1659C>T (p.Asn553=) rs869312796
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp) rs63751640
NM_000251.3(MSH2):c.2017G>A (p.Gly673Arg) rs1558519543
NM_000251.3(MSH2):c.2077T>C (p.Cys693Arg) rs1558519728
NM_000251.3(MSH2):c.2086C>G (p.Pro696Ala) rs546201898
NM_000251.3(MSH2):c.2285T>C (p.Leu762Ser) rs1558521698
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val) rs1261458082
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2479G>C (p.Gly827Arg) rs63750478
NM_000251.3(MSH2):c.2754G>T (p.Lys918Asn) rs1553370893
NM_000251.3(MSH2):c.432C>T (p.Ser144=) rs1558459072
NM_000251.3(MSH2):c.480G>T (p.Gln160His) rs1558459273
NM_000251.3(MSH2):c.53G>A (p.Gly18Asp) rs1200418561
NM_000251.3(MSH2):c.925G>C (p.Ala309Pro) rs781257094
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys) rs1562637166
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly) rs1562701448
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly) rs1562634610
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.195T>C (p.Leu65=) rs780080040
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile) rs1394474494
NM_000535.7(PMS2):c.475G>C (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.727G>T (p.Val243Phe) rs867655834
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_001184.4(ATR):c.3952del (p.Lys1317_Leu1318insTer) rs869312789
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr) rs869312790
NM_004360.5(CDH1):c.1937-383A>G rs869312792
NM_005431.1(XRCC2):c.122-?_*(1_?)del
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005591.4(MRE11):c.21-6_26del rs587780138
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter) rs779269083
NM_007294.4(BRCA1):c.4552C>G (p.Gln1518Glu) rs80356881
NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu) rs145758886
NM_013372.7(GREM1):c.273A>G (p.Arg91=) rs869312795
NM_032043.3(BRIP1):c.1340+5G>C rs869312791

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